An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families

An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families

Abstract Primary ciliary dyskinesia (PCD) is clinically characterized by neonatal respiratory distress, chronic sinusitis, bronchiectasis and infertility, and situs inversus in 50% of the patients. PCD is a result of mutations in genes encoding proteins involved in ciliary function, and is primarily...

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Autores principales: Ting Guo, Zhi-Ping Tan, Hua-Mei Chen, Dong-yuan Zheng, Lv liu, Xin-Gang Huang, Ping Chen, Hong Luo, Yi-Feng Yang
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
Materias:
Medicine
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Science
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Acceso en línea:https://doaj.org/article/d90d30b19c3640d1b931af597747914b
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