Fine mapping of the 9q31 Hirschsprung’s disease locus

Hirschsprung’s disease (HSCR) is a congenital disorder characterised by the absence of ganglia along variable lengths of the intestine. The RET gene is the major HSCR gene. Reduced penetrance of RET mutations and phenotypic variability suggest the involvement of additional modifying genes in the dis...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Tang, C. S., Sribudiani, Y., Miao, X. P., de Vries, A. R., Burzynski, G., So, M. T., Leon, Y. Y., Yip, B. H., Osinga, J., Hui, K. J. W. S., Verheij, J. B. G. M., Cherny, S. S., Tam, P. K. H., Sham, P. C., Hofstra, R. M. W., Garcia-Barceló, M. M.
Format: Artigo
Langue:Inglês
Publié: Springer-Verlag 2010
Sujets:
Original Investigation
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2871095/
https://ncbi.nlm.nih.gov/pubmed/20361209
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-010-0813-8
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