Germline mutations in the von Hippel-Lindau gene in Italian patients

European Journal of Medical Genetics

Volumn 52, Issue 5, 2009, Pages 311-314

  Ciotti, Paola ^a   Garuti, Anna ^b   Gulli, Rossella ^a   Ballestrero, Alberto ^b   Bellone, Emilia ^a   Mandich, Paola ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

Author keywords

RQ PCR; VHL germline mutations; von Hippel Lindau (VHL) disease

Indexed keywords

VON HIPPEL LINDAU PROTEIN;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL PROTOCOL; CONTROLLED STUDY; GENE MUTATION; HUMAN; LABORATORY DIAGNOSIS; MUTATIONAL ANALYSIS; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; VALIDATION STUDY; VON HIPPEL LINDAU DISEASE;

COHORT STUDIES; DNA; DNA MUTATIONAL ANALYSIS; GENE DELETION; GENES; GERM-LINE MUTATION; HUMANS; ITALY; POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; VON HIPPEL-LINDAU DISEASE; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 69049083361     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.05.007     Document Type: Article

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