Seven novel genetic variants in a North Indian cohort with classical homocystinuria

Nature Scientific reports, Vol. 10, Issue 1, Pages 17299, 2020

PMID: 33057012

Classical homocystinuria is the most common cause of isolated homocystinuria. The variants of the CBS gene remain unidentified in Indian children with this disorder. Based on the hallmark clinical features, family history, and/or biochemical clues for classical homocystinuria, 16 children below the age of 18 years were evaluated by Sanger sequencing of the coding exons of CBS gene with flanking intronic regions.

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