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 en:Sci Rep
Autores principales: 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
Lenguaje:Inglês
Publicado: Nature Publishing Group 2016
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Article
Acceso en línea: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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