Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is an autosomal-recessive disorder resulting from loss of normal ciliary function. Symptoms include neonatal respiratory distress, chronic sinusitis, bronchiectasis, situs inversus, and infertility. Clinical features may be subtle and highly variable, making the diag...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:G3 (Bethesda)
Prif Awduron: Marshall, Christian R., Scherer, Stephen W., Zariwala, Maimoona A., Lau, Lynette, Paton, Tara A., Stockley, Tracy, Jobling, Rebekah K., Ray, Peter N., Knowles, Michael R., Hall, David A., Dell, Sharon D., Kim, Raymond H.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Genetics Society of America 2015
Pynciau:
Investigations
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4528333/
https://ncbi.nlm.nih.gov/pubmed/26139845
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/g3.115.019851
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