Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype

Primary ciliary dyskinesia (PCD) is a rare lung disease caused by mutations that impair the function of motile cilia, resulting in chronic upper and lower respiratory disease, reduced fertility, and a high prevalence of situs abnormalities. The disease is genetically and phenotypically heterogeneous...

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Detalles Bibliográficos
Autores principales: Ostrowski, Lawrence E., Yin, Weining, Smith, Amanda J., Sears, Patrick R., Bustamante-Marin, Ximena M., Dang, Hong, Hildebrandt, Friedhelm, Daniels, Leigh Anne, Capps, Nicole A., Sullivan, Kelli M., Leigh, Margaret W., Zariwala, Maimoona A., Knowles, Michael R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8835943/
https://www.ncbi.nlm.nih.gov/pubmed/35163670
http://dx.doi.org/10.3390/ijms23031753

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