Molecular analysis of two uncharacterized sequence variants of the VHL gene

Journal of Human Genetics

Volumn 51, Issue 11, 2006, Pages 964-968

  Martella, Maddalena ^a   Salviati, Leonardo ^a   Casarin, Alberto ^a   Trevisson, Eva ^a   Opocher, Giuseppe ^a   Polli, Roberta ^a   Gross, David ^b   Murgia, Alessandra ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Duplication; mRNA; Polymorphism; Promoter; Silent mutation; VHL

Indexed keywords

ADENINE; CYTOSINE; MESSENGER RNA;

ADOLESCENT; ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CANCER SUSCEPTIBILITY; CASE REPORT; CODON; CONSENSUS SEQUENCE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE CONTROL; GENE DUPLICATION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; MALE; NEOPLASM; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PROMOTER REGION; PROTEIN VARIANT; RNA ANALYSIS; RNA SPLICING; SCHOOL CHILD; SEQUENCE ANALYSIS; SILENT MUTATION; TUMOR SUPPRESSOR GENE; VHL GENE; VON HIPPEL LINDAU DISEASE;

ADOLESCENT; ADULT; ALLELES; BASE SEQUENCE; CHILD; EXONS; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); VARIATION (GENETICS); VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 33751273857     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0054-9     Document Type: Article

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