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• W2091714008 abstract "The β-hexosaminidase A (HEXA) mutations in the first reported cases of infantile Tay-Sachs disease in the Persian population were identified in two unrelated consanguineous families. The clinical diagnoses of the affected infants were confirmed by their markedly deficient levels of HEXA activity in plasma or peripheral leukocytes. The specific causative mutation in each family was determined by sequencing the HEXA alleles in both sets of related parents. Two mutations were identified: c.1A>G (p.MIV), which obliterated the initiating methionine in codon 1, and c.1177C>T (p.R393X), which predicted a termination codon or nonsense mutation." @default.
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• W2091714008 date "2011-07-28" @default.
• W2091714008 modified "2023-10-13" @default.
• W2091714008 title "Identification of two HEXA mutations causing infantile-onset Tay–Sachs disease in the Persian population" @default.
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• W2091714008 doi "https://doi.org/10.1038/jhg.2011.78" @default.
• W2091714008 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21796138" @default.
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