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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Genetics Society of America 2015
Materias:
Investigations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528333/
https://www.ncbi.nlm.nih.gov/pubmed/26139845
http://dx.doi.org/10.1534/g3.115.019851

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