Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients

Alström syndrome (AS, OMIM ID 203800) is a rare childhood multiorgan disorder, which is widely studied in non-Arab ethnic patients. The clinical and molecular basis of AS and the mode of disease inheritance in consanguineous Arab populations is not well investigated. Therefore, to identify the molec...

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Detalles Bibliográficos
Autores principales: Kamal, Naglaa M., Sahly, Ahmed N., Banaganapalli, Babajan, Rashidi, Omran M., Shetty, Preetha J., Al-Aama, Jumana Y., Shaik, Noor A., Elango, Ramu, Saadah, Omar I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6933154/
https://www.ncbi.nlm.nih.gov/pubmed/31889847
http://dx.doi.org/10.1016/j.sjbs.2019.09.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6933154/
https://www.ncbi.nlm.nih.gov/pubmed/31889847
http://dx.doi.org/10.1016/j.sjbs.2019.09.006

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