Phenotypic expression in von Hippel-Lindau disease: Correlations with germline VHL gene mutations

Journal of Medical Genetics

Volumn 33, Issue 4, 1996, Pages 328-332

  Maher, Eamonn R ^a   Webster, Andrew R ^a,b   Richards, Frances M ^a   Green, Jane S ^c   Crossey, Paul A ^a   Payne, Stewart J ^b   Moore, Anthony T ^b  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

Author keywords

Phaeochromocytoma; Renal cell carcinoma; VHL gene mutations; Von Hippel Lindau disease

Indexed keywords

ARTICLE; CLINICAL ARTICLE; FAMILIAL CANCER; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; GERM LINE; HEMANGIOBLASTOMA; HUMAN; KIDNEY CARCINOMA; PHENOTYPE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING; VON HIPPEL LINDAU DISEASE;

EID: 0029940856     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.4.328     Document Type: Article

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