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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5172161/ https://www.ncbi.nlm.nih.gov/pubmed/27996019 http://dx.doi.org/10.1038/srep38776 |
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