Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family

BMC Medical Genetics

Volumn 9, Issue , 2008, Pages

  Patocs, Attila ^a   Gergics, Peter ^a   Balogh, Katalin ^a   Toth, Miklos ^a   Fazakas, Ferenc ^b   Liko, Istvan ^c   Racz, Karoly ^a  

^a SEMMELWEIS UNIVERSITY   (Hungary)

^b UNIVERSITY OF DEBRECEN   (Hungary)

^c GEDEON RICHTER LTD   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

ISOLEUCINE; LEUCINE; PROLINE; SERINE; VON HIPPEL LINDAU PROTEIN; VHL PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CODON; FAMILY; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE; HIGH RISK PATIENT; HUMAN; HUNGARY; KIDNEY CARCINOMA; PATHOGENESIS; PHENOTYPE; PHEOCHROMOCYTOMA; PROTEIN STRUCTURE; VON HIPPEL LINDAU DISEASE; AMINO ACID SEQUENCE; CHEMISTRY; GENETICS; MALE; MUTATION; PEDIGREE; PROTEIN SECONDARY STRUCTURE; SEQUENCE ALIGNMENT;

AMINO ACID SEQUENCE; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; PROLINE; PROTEIN STRUCTURE, SECONDARY; SEQUENCE ALIGNMENT; SERINE; VON HIPPEL-LINDAU DISEASE; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 43049095689     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-9-29     Document Type: Article

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