Two affected HEXA alleles were found in an Israeli Druze Tay-Sachs child born to first-cousin parents. His paternal allele contained two adjacent changes in exon 5: a496C, which resulted in a frameshift and premature termination codon 96 nucleotides downstream, and 498CÃG, a silent mutation. The mat
A novel HEXA mutation [1393G>A (D465N)] in a Mexican Tay-Sachs disease patient
✍ Scribed by Adriana Álvarez-Rodríguez; Barbara Triggs-Raine; Patricio Barros-Núñez; Claudina Medina Lozano
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 20 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1059-7794
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