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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Detalles Bibliográficos
Autores principales: 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.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2871095/
https://www.ncbi.nlm.nih.gov/pubmed/20361209
http://dx.doi.org/10.1007/s00439-010-0813-8

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