Author Archives: Santiago Gisler

Whole-exome Sequencing Discovers New Mutations in Alström Syndrome Patient

Studying mutations in the protein-coding parts of the DNA through whole-exome sequencing helps improve the clinical understanding of rare diseases such as Alström syndrome (AS), according to a case study. The study, “Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With…

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