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Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome
Kartagener syndrome (KS), a subtype of primary ciliary dyskinesia (PCD), is characterized by bronchiectasis, chronic sinusitis, male infertility and situs inversus. KS is a genetically heterogeneous disease that is inherited in an autosomal recessive form; however, X-linked inheritance has also been...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Portland Press Ltd.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7298131/ https://www.ncbi.nlm.nih.gov/pubmed/32490514 http://dx.doi.org/10.1042/BSR20192510 |