Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 2B patient (patient no. V345). … (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. Direct sequencing on peripheral blood was systematically performed on exon 1 P… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 1 patient (patient no. V285). N… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

c.165G>A results in synonymous change Glu55Glu. This is family V5 in the paper (VHL Type 1, no phechromocytoma).

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 1 patient (patient no. V374). T… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. Direct sequencing on peripheral blood was systematically performed on exon 1 P… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in two unrelated VHL type 1 patients (patient… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This mutation was found in a VHL type 1 patient (patient no. V67). Only modera… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in the germline of a male VHL patient (patien… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in the germline of a female patient (patient … (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This silent variant was found in a VHL patient (patient no. V95). No unaffecte… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. Direct sequencing on peripheral blood was systematically performed on exon 1 P… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 1 patient (patient no. V48). No… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This mutation causes a premature stop codon at amino acid 201 and was found in… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This mutation causes a premature stop codon at amino acid 173 and was found in… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in 3 VHL type 1 family members (patient no. V… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. ACMG codes as follows. This mutation causes a premature stop codon at amino ac… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. Direct sequencing on peripheral blood was systematically performed on exon 1 P… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in two VHL type 1 family members (patient no.… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. Direct sequencing on peripheral blood was systematically performed on exon 1 P… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 1 patient (patient no. V269). F… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This mutation causes a premature stop codon at amino acid 131 and was found in… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 2A patient (patient no. V233). … (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. Direct sequencing or peripheral blood was systematically performed on exon 1 P… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This silent mutation was found in two VHL type 2A family members (patient no. … (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This mutation was found in a VHL type 1 patient (patient no. V96). This study … (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in 3 VHL type 2B family members (patient no. … (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This mutation was found in a VHL type 1 patient (patient no. V64). This study … (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This mutation was found in a VHL type 1 patient (patient no. V77). This study … (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This mutation was found in a VHL type 1 patient (patient V59). This study cont… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This mutation was found in 2 unrelated VHL type 1 patients (patient V3, V46). … (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in 3 unrelated VHL type 2A patients (patients… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. Blood samples were isolated and sequenced by direct sequencing using prism-ready reaction dye primer cycle sequencing kits… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 2A patient, a VHL type 2B patie… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This in-frame insertion mutation was found in 3 VHL type 1 family members (kin… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation causes a premature stop codon at amino acid 66 and was … (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in 3 VHL type 2B family members (kindred no. … (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 2 patient (patient no. V209).

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in two VHL type 1 family members (patient no.… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 1 patient (patient no. V259). T… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. Direct sequencing on peripheral blood was systematically performed on exon 1 P… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This splice site mutation was found in a VHL type 2B patient (no. V283). Patie… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This mutation was found in a VHL type 2B patient (patient no. V89). This study… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in 14 VHL type 1 family members (patient no. … (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 2A patient (patient no. V240). … (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 1 patient (patient no. V91). No… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 2A patient (patient no. V49). T… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 1 patient (patient no. V81). No… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. Direct sequencing on peripheral blood was systematically performed on exon 1 P… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This mutation was found in a VHL type 1 patient (patient no. V287). Only moder… (full text at CIViC)

PMID 9829912 · Olschwang et al., 1998 · Open in CIViC