Identifying Candidate Hirschsprung Disease–Associated RET Variants

Patients with sporadic Hirschsprung disease (HSCR) show increased allele sharing at markers in the 5′ region of the RET locus, indicating the presence of a common ancestral RET mutation. In a previous study, we found a haplotype of six SNPs that was transmitted to 55.6% of our patients, whereas it w...

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Bibliografiske detaljer
Main Authors: Burzynski, Grzegorz M., Nolte, Ilja M., Bronda, Agnes, Bos, Krista K., Osinga, Jan, Plaza Menacho, Ivan, Twigt, Bas, Maas, Saskia, Brooks, Alice S., Verheij, Joke B. G. M., Buys, Charles H. C. M., Hofstra, Robert M. W.
Format: Artigo
Sprog:Inglês
Udgivet: The American Society of Human Genetics 2005
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1199373/
https://ncbi.nlm.nih.gov/pubmed/15759212
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