Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene

American Journal of Medical Genetics

Volumn 87, Issue 2, 1999, Pages 163-167

  Bradley, John F ^a   Collins, Debra L ^b   Schimke, R Neil ^b   Parrott, Heather N ^a   Rothberg, Paul G ^a  

^a CHILDREN S MERCY HOSPITAL   (United States)

^b UNIVERSITY OF KANSAS SCHOOL OF MEDICINE   (United States)

Author keywords

Genotype phenotype correlation; Pheochromocytoma; Renal cell carcinoma; VHL gene; Von Hippel Lindau disease

Indexed keywords

AMINO ACID; DNA; NUCLEOTIDE; PROTEIN;

ARTICLE; CODON; DNA SEQUENCE; EXON; GENE; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; VON HIPPEL LINDAU DISEASE;

ADULT; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CARCINOMA, RENAL CELL; CHILD; CODON; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HIPPEL-LINDAU DISEASE; HUMANS; LIGASES; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PHEOCHROMOCYTOMA; PROTEINS; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN-PROTEIN LIGASES; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

GENETTA;

EID: 0032729680     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991119)87:2<163::AID-AJMG7>3.0.CO;2-A     Document Type: Article

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