Founder mutation in RSPH4A identified in patients of Hispanic descent with Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive, genetically heterogeneous disorder characterized by ciliary dysfunction resulting in chronic oto-sino-pulmonary disease, respiratory distress in term neonates, laterality (situs) defects, and bronchiectasis. Diagnosis has traditionally...

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Detalhes bibliográficos
Main Authors: Daniels, M. Leigh Anne, Leigh, Margaret W., Davis, Stephanie D., Armstrong, Michael C., Carson, Johnny L., Hazucha, Milan, Dell, Sharon D., Eriksson, Maria, Collins, Francis S., Knowles, Michael R., Zariwala, Maimoona A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3906677/
https://ncbi.nlm.nih.gov/pubmed/23798057
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22371
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