Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus

Journal of Medical Genetics

Volumn 43, Issue 5, 2006, Pages 419-423

  De Pontual, L ^b   Pelet, A ^b   Trochet, D ^b   Jaubert, F ^a   Espinosa Parrilla, Y ^b   Munnich, A ^b   Brunet, J F ^c   Goridis, C ^c   Feingold, J ^b   Lyonnet, S ^b   Amiel, J ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c ECOLE NORMALE SUPÉRIEURE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN RET;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONGENITAL CENTRAL HYPOVENTILATION SYNDROME; CONTROLLED STUDY; FEMALE; GENE; GENE FREQUENCY; GENE INTERACTION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC PREDISPOSITION; GENETIC RISK; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HIRSCHSPRUNG DISEASE; HUMAN; HYPOVENTILATION; IN VIVO STUDY; MAJOR CLINICAL STUDY; MALE; MOUSE; MOWAT WILSON SYNDROME; NONHUMAN; NULL ALLELE; PHENOTYPE; PHOX2B GENE; PRIORITY JOURNAL; QUANTITATIVE TRAIT; SINGLE NUCLEOTIDE POLYMORPHISM; ZFHX1B GENE;

ALLELES; ANIMALS; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; HAPLOTYPES; HIRSCHSPRUNG DISEASE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MICE; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-RET; SYNDROME; TRANSCRIPTION FACTORS;

ANIMALIA;

EID: 33646386646     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.040113     Document Type: Article

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