A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease

European Journal of Human Genetics

Volumn 8, Issue 9, 2000, Pages 721-724

  Griseri, Paola ^a   Sancandi, Monica ^a   Patrone, Giovanna ^a   Bocciardi, Renata ^a   Hofstra, Robert ^b   Ravazzolo, Roberto ^a,c   Devoto, Marcella ^c   Romeo, Giovanni ^d   Ceccherini, Isabella ^a  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF GRONINGEN   (Netherlands)

^c UNIVERSITY OF GENOA   (Italy)

^d INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

Author keywords

Association study; Hirschsprung disease; RET proto oncogene; RNA splicing; Single nucleotide polymorphism

Indexed keywords

ENDOTHELIN; NUCLEOTIDE; PROTEIN TYROSINE KINASE; RNA;

ARTICLE; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA POLYMORPHISM; ENVIRONMENTAL FACTOR; EXON; FUNCTION TEST; GASTROINTESTINAL TRACT; GENE FREQUENCY; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HEREDITY; HIRSCHSPRUNG DISEASE; HUMAN; ITALY; MAJOR CLINICAL STUDY; NERVE CELL; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTO ONCOGENE; RECURRENCE RISK; RISK FACTOR; RNA EDITING; RNA SPLICING; SIGNAL TRANSDUCTION; THYROID MEDULLARY CARCINOMA;

ALLELES; CARCINOMA, MEDULLARY; CHILD; CHILD, PRESCHOOL; DOWN SYNDROME; DROSOPHILA PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HIRSCHSPRUNG DISEASE; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; THYROID NEOPLASMS; VARIATION (GENETICS);

EID: 0033813240     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200521     Document Type: Article

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