Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients
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DOI: 10.1016/j.sjbs.2019.09.006
Abstract: 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… read more here.
Keywords: whole exome; exome sequencing; rare biallelic; alstr syndrome ... See more keywords