SLC34A2 gene compound heterozygous mutation identification in a patient with pulmonary alveolar microlithiasis and computational 3D protein structure prediction

We recently diagnosed a patient with pulmonary alveolar microlithiasis (PAM). Because loss-of-function mutations of the SLC34A2 gene are responsible for the development of PAM, we sought to sequence the SLC34A2 gene of the patient and his direct relatives, with a purpose to identify mutations that c...

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Detalles Bibliográficos
Autores principales: Wang, Huiying, Yin, Xinzhen, Wu, Dingwen, Jiang, Xinguo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287860/
https://www.ncbi.nlm.nih.gov/pubmed/25606438
http://dx.doi.org/10.1016/j.mgene.2014.07.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287860/
https://www.ncbi.nlm.nih.gov/pubmed/25606438
http://dx.doi.org/10.1016/j.mgene.2014.07.004

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