Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is an autosomal-recessive disorder characterized by impaired ciliary function that leads to subsequent clinical phenotypes such as chronic sinopulmonary disease. PCD is also a genetically heterogeneous disorder with many single gene mutations leading to similar clini...

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Detalles Bibliográficos
Autores principales: Alsaadi, Muslim M, Erzurumluoglu, A Mesut, Rodriguez, Santiago, Guthrie, Philip A I, Gaunt, Tom R, Omar, Hager Z, Mubarak, Mohammad, Alharbi, Khalid K, Al-Rikabi, Ammar C, Day, Ian N M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2014
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489323/
https://www.ncbi.nlm.nih.gov/pubmed/25224326
http://dx.doi.org/10.1002/humu.22698

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489323/
https://www.ncbi.nlm.nih.gov/pubmed/25224326
http://dx.doi.org/10.1002/humu.22698

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