Genotype-phenotype correlations in von Hippel-Lindau disease

Human Mutation

Volumn 28, Issue 2, 2007, Pages 143-149

  Kai, Ren Ong ^a   Woodward, Emma R ^a   Killick, Pip ^b   Lim, Caron ^b   Macdonald, Fiona ^a   Maher, Eamonn R ^a,b  

^a BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

Genotype phenotype; Pheochromocytoma; VHL

Indexed keywords

DNA; VON HIPPEL LINDAU PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CANCER RISK; CEREBELLUM TUMOR; DISEASE ASSOCIATION; FAMILIAL CANCER; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEMANGIOMATOSIS; HUMAN; KIDNEY CARCINOMA; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; PROTEIN STRUCTURE; RETINA DISEASE; TUMOR SUPPRESSOR GENE; VON HIPPEL LINDAU DISEASE;

AGE FACTORS; CARCINOMA, RENAL CELL; GENOTYPE; HIPPEL-LINDAU DISEASE; MUTATION, MISSENSE; PHENOTYPE; PHEOCHROMOCYTOMA; RISK FACTORS; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 33846913473     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20385     Document Type: Article

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