Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

Journal of Medical Genetics

Volumn 36, Issue 10, 1999, Pages 771-774

  Borrego, Salud ^a   Sáez, María Eugenia ^a   Ruiz, Agustín ^a   Gimm, Oliver ^c   López Alonso, Manuel ^b   Antiñolo, Guillermo ^a   Eng, Charis ^c,d  

^a Unidad de Genetica Medica y Diagnostico Prenatal   (Spain)

^b Cardiol Serv Univ Hosp Virgen M   (Spain)

^c OHIO STATE UNIVERSITY   (United States)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Chromosome 10; Low penetrance alleles; Neurocristopathy; Polymorphism

Indexed keywords

AGANGLIONOSIS; ALLELE; ARTICLE; CONTROLLED STUDY; DISEASE PREDISPOSITION; EXON; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GERM LINE; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTESTINE OBSTRUCTION; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; PROSPECTIVE STUDY; PROTO ONCOGENE; SPAIN; STATISTICAL ANALYSIS;

EID: 2442750413     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.36.10.771     Document Type: Article

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