Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis

Cystic fibrosis (CF) is an autosomal recessive disorder characterized by the accumulation of sticky and heavy mucus that can damage several organs. CF shows variable expressivity in affected individuals, but it typically causes respiratory and digestive complications as well as congenital bilateral...

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Publicado no:Sci Rep
Main Authors: Celestino-Soper, Patricia B. S., Simpson, Edward, Tumbleson Brink, Danika, Lynnes, Ty C., Dlouhy, Stephen, Vatta, Matteo, Yeley, Jana, Brown, Cynthia, Bai, Shaochun
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5172161/
https://ncbi.nlm.nih.gov/pubmed/27996019
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep38776
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