From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula

Primary ciliary dyskinesia (PCD) is a genetic disorder, usually autosomal recessive, causing early respiratory disease and later subfertility. Whole exome sequencing may enable efficient analysis for locus heterogeneous disorders such as PCD. We whole exome sequenced one consanguineous Saudi Arabian...

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Detalhes bibliográficos
Main Authors: AlSaadi, Muslim M, Gaunt, Tom R, Boustred, Christopher R, Guthrie, Philip AI, Liu, Xuan, Lenzi, Luca, Rainbow, Lucille, Hall, Neil, Alharbi, Khalid K, Day, Ian NM
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3575730/
https://ncbi.nlm.nih.gov/pubmed/22384920
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1469-1809.2012.00704.x
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