Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal recessive disorder that results from functional and ultrastructural abnormalities of motile cilia. Patients with PCD have diverse clinical phenotypes that include chronic upper and lower respiratory tract infections, situs in...

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Bibliografiska uppgifter
I publikationen:Mol Genet Genomic Med
Huvudupphovsmän: Fedick, Anastasia M, Jalas, Chaim, Treff, Nathan R, Knowles, Michael R, Zariwala, Maimoona A
Materialtyp: Artigo
Språk:Inglês
Publicerad: BlackWell Publishing Ltd 2015
Ämnen:
Original Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4367086/
https://ncbi.nlm.nih.gov/pubmed/25802884
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.124
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