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Volumn 359, Issue 9313, 2002, Pages 1200-1205

Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CAUCASIAN; CONTROLLED STUDY; DNA SEQUENCE; EXON; FAMILIAL DISEASE; FEMALE; GENE INTERACTION; GENE LOCUS; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENOTYPE; GERM LINE; GERMANY; HIRSCHSPRUNG DISEASE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTO ONCOGENE;

EID: 0037029395     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(02)08218-1     Document Type: Article
Times cited : (95)

References (35)
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    • Bolande, R.P.1
  • 22
    • 2442750413 scopus 로고    scopus 로고
    • Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression
    • (1999) J Med Genet , vol.36 , pp. 771-774
    • Borrego, S.1    Saez, M.E.2    Ruiz, A.3
  • 28
    • 0028120882 scopus 로고
    • Point mutations affecting the tyrosine kinase domain of of the RET proto-oncogene in Hirschsprung's disease
    • (1994) Nature , vol.367 , pp. 377-378
    • Romeo, G.1    Ronchetto, P.2    Luo, Y.3
  • 34
    • 0032869135 scopus 로고    scopus 로고
    • Two distinct mutations of RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site
    • (1999) Hum Mol Genet , vol.8 , pp. 1989-1999
    • Geneste, O.1    Bidaud, C.2    De Vita, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.