Detection of a germline mutation and somatic homozygous loss of the von Hippel-Lindau tumor-suppressor gene in a family with a de novo mutation-Reference-Cited by-同舟云学术

Detection of a germline mutation and somatic homozygous loss of the von Hippel-Lindau tumor-suppressor gene in a family with a de novo mutation

Published:1996-06 Issue:6 Volume:97 Page:770-776
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Decker Hans-Jochen H.,Neuhaus Christine,Jauch Anna,Speicher Michael,Ried Thomas,Bujard Michael,Brauch Hiltrud,Störkel Stephen,Stöckle Michael,Seliger Barbara,Huber Christoph

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF02346188.pdf

Reference40 articles.

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2. Choyke PL, Glenn GW, Patronas NJ, Linehan WM, Zbar B (1995) Von Hippel-Lindau disease: genetic, clinical, and imaging features. Radiology 194: 629–642

3. Crossey PA, Foster K, Richards FM, Phipps ME, Latif F, Tory K, Jones MH, Bentley E, Kumar R, Lerman MI et al (1994a) Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours. Hum Genet 93: 53–58

4. Crossey PA, Richards FM, Foster K, Green JS, Prowse A, Latif F, Lerman M, Zbar B, Affara NA, Ferguson-Smith MA, Maher ER (1994b) Identification of intragenic mutations in the von Hippel-Lindau disease tumor suppressor gene and correlation with disease phenotype. Hum Mol Genet 3: 1303–1308

5. Davies DR, Norman AM, Whitehouse RW, Evans DG (1994) Non-expression of von Hippel-Lindau phenotype in an obligate gene carrier. Clin Genet 45: 104–106

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