Genetic Characterization and Structural Analysis of VHL Spanish Families to Define Genotype-Phenotype Correlations

Human Mutation

Volumn 23, Issue 2, 2004, Pages 160-169

  Ruiz Llorente, Sergio ^a   Bravo, Jerónimo ^a   Cebrián, Arancha ^a   Cascón, Alberto ^a   Pollan, Marina ^b   Tellería, Dolores ^a   Letón, Rocío ^a   Urioste, Miguel ^a   Rodríguez López, Raquel ^a   De Campos, Jose M ^c   Muñoz, María J ^d   Lacambra, Carmen ^e   Benítez, Javier ^a   Robledo, Mercedes ^a  

^a Structural Biology and Biocomputing Programme   (Spain)

^b CARLOS III INSTITUTE OF HEALTH   (Spain)

^c HOSPITAL UNIVERSITARIO RÍO HORTEGA   (Spain)

^d HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^e HOSPITAL SEVERO OCHOA   (Spain)

Author keywords

Genotype phenotype; Renal carcinoma; Structural stability; VHL; Von Hippel Lindau

Indexed keywords

AMINO ACID SEQUENCE; ARTICLE; CHROMOSOME 3P; CLINICAL ARTICLE; FAMILIAL CANCER; FAMILY STUDY; FEMALE; GENE; GENE REARRANGEMENT; GENOTYPE PHENOTYPE CORRELATION; GERM LINE; HUMAN; KIDNEY CARCINOMA; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PENETRANCE; PHEOCHROMOCYTOMA; POINT MUTATION; PRIORITY JOURNAL; PROTEIN STABILITY; TUMOR SUPPRESSOR GENE; VHL GENE; VON HIPPEL LINDAU DISEASE;

ADENOCARCINOMA, CLEAR CELL; ADOLESCENT; ADULT; AGE OF ONSET; CARCINOMA, RENAL CELL; CHILD; FEMALE; GENES, TUMOR SUPPRESSOR; GENOTYPE; HIPPEL-LINDAU DISEASE; HUMANS; KIDNEY NEOPLASMS; MACROMOLECULAR SUBSTANCES; MALE; MIDDLE AGED; MODELS, MOLECULAR; MUTATION, MISSENSE; PHENOTYPE; SPAIN; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN-PROTEIN LIGASES; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 10744222427     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10309     Document Type: Article

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