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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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| Foilsithe in: | Saudi J Biol Sci |
|---|---|
| Main Authors: | , , , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Elsevier
2020
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6933154/ https://ncbi.nlm.nih.gov/pubmed/31889847 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.sjbs.2019.09.006 |
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