Rare A2ML1 variants confer susceptibility to otitis media

A duplication variant within middle-ear-specific gene A2ML1 co-segregates with otitis media in an indigenous Filipino pedigree (LOD score=7.5 at reduced penetrance) and lies within a founder haplotype that is also shared by three otitis-prone European- and Hispanic-American children, but is absent i...

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Publicat a:Nat Genet
Autors principals: Santos-Cortez, Regie Lyn P., Chiong, Charlotte M., Reyes-Quintos, Ma. Rina T., Tantoco, Ma. Leah C., Wang, Xin, Acharya, Anushree, Abbe, Izoduwa, Giese, Arnaud P., Smith, Joshua D., Allen, E. Kaitlynn, Li, Biao, Cutiongco-de la Paz, Eva Maria, Garcia, Marieflor Cristy, Llanes, Erasmo Gonzalo D.V., Labra, Patrick John, Gloria-Cruz, Teresa Luisa I., Chan, Abner L., Wang, Gao T., Daly, Kathleen A., Shendure, Jay, Bamshad, Michael J., Nickerson, Deborah A., Patel, Janak A., Riazuddin, Saima, Sale, Michele M., Chonmaitree, Tasnee, Ahmed, Zubair M., Abes, Generoso T., Leal, Suzanne M.
Format: Artigo
Idioma:Inglês
Publicat: 2015
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4528370/
https://ncbi.nlm.nih.gov/pubmed/26121085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3347
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