Highly Recurrent RET Mutations and Novel Mutations in Genes of the Receptor Tyrosine Kinase and Endothelin Receptor B Pathways in Chinese Patients with Sporadic Hirschsprung Disease | Zendy

Mercè Garcia-Barceló | Zendy; MH Sham | Zendy; WingShan Lee | Zendy; Vincent ChiHang Lui | Zendy; Benedict Ling-Sze Chen | Zendy; Kenneth KakYuen Wong | Zendy; Joyce S. W. Wong | Zendy; Paul KwongHang Tam | Zendy

Open Access

Highly Recurrent RET Mutations and Novel Mutations in Genes of the Receptor Tyrosine Kinase and Endothelin Receptor B Pathways in Chinese Patients with Sporadic Hirschsprung Disease

Author(s) -

Mercè Garcia-Barceló,

MH Sham,

WingShan Lee,

Vincent ChiHang Lui,

Benedict Ling-Sze Chen,

Kenneth KakYuen Wong,

Joyce S. W. Wong,

Paul KwongHang Tam

Publication year - 2004

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2003.022061

Subject(s) - endothelin 3 , glial cell line derived neurotrophic factor , mutation , biology , genetics , proto oncogene proteins c ret , receptor tyrosine kinase , gene , exon , hirschsprung's disease , endothelin receptor , cancer research , receptor , endothelins , medicine , disease , neurotrophic factors

Hirschsprung disease (HSCR) is a congenital disorder characterized by an absence of ganglion cells in the nerve plexuses of the lower digestive tract. HSCR has a complex pattern of inheritance and is sometimes associated with mutations in genes of the receptor tyrosine kinase (RET) and endothelin receptor B (EDNRB) signaling pathways, which are crucial for development of the enteric nervous system.

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