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...

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Dades bibliogràfiques
Publicat a:G3 (Bethesda)
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Genetics Society of America 2015
Matèries:
Investigations
Accés en línia: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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