Haplotype Analysis Reveals a Possible Founder Effect of RET Mutation R114H for Hirschsprung's Disease in the Chinese Population

BACKGROUND: Hirschsprung's disease (HSCR) is a congenital disorder associated with the lack of intramural ganglion cells in the myenteric and sub-mucosal plexuses along varying segments of the gastrointestinal tract. The RET gene is the major gene implicated in this gastrointestinal disease. A...

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Main Authors: Cornes, Belinda K., Tang, Clara S., Leon, Thomas Y. Y., Hui, Kenneth J. W. S., So, Man-Ting, Miao, Xiaoping, Cherny, Stacey S., Sham, Pak C., Tam, Paul K. H., Garcia-Barcelo, Maria-Merce
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2010
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2880000/
https://ncbi.nlm.nih.gov/pubmed/20532249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0010918
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