| http://purl.uniprot.org/citations/7902672 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7902672 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7902672 | http://www.w3.org/2000/01/rdf-schema#comment | "Deficient activity of beta-hexosaminidase A (Hex A), resulting from mutations in the HEXA gene, typically causes Tay-Sachs disease. However, healthy individuals lacking Hex A activity against synthetic substrates (i.e., individuals who are pseudodeficient) have been described. Recently, an apparently benign C739-to-T (Arg247Trp) mutation was found among individuals with Hex A levels indistinguishable from those of carriers of Tay-Sachs disease. This allele, when in compound heterozygosity with a second "disease-causing" allele, results in Hex A pseudodeficiency. We examined the HEXA gene of a healthy 42-year-old who was Hex A deficient but did not have the C739-to-T mutation. The HEXA exons were PCR amplified, and the products were analyzed for mutations by using restriction-enzyme digestion or single-strand gel electrophoresis. A G805-to-A (Gly269Ser) mutation associated with adult-onset GM2 gangliosidosis was found on one chromosome. A new mutation, C745-to-T (Arg249Trp), was identified on the second chromosome. This mutation was detected in an additional 4/63 (6%) non-Jewish and 0/218 Ashkenazi Jewish enzyme-defined carriers. Although the Arg249Trp change may result in a late-onset form of GM2 gangliosidosis, any phenotype must be very mild. This new mutation and the benign C739-to-T mutation together account for approximately 38% of non-Jewish enzyme-defined carriers. Because carriers of the C739-to-T and C745-to-T mutations cannot be differentiated from carriers of disease-causing alleles by using the classical biochemical screening approaches, DNA-based analyses for these mutations should be offered for non-Jewish enzyme-defined heterozygotes, before definitive counseling is provided."xsd:string |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/author | "Cao Z."xsd:string |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/author | "Cao Z."xsd:string |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/author | "Brown D."xsd:string |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/author | "Brown D."xsd:string |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/author | "Triggs-Raine B.L."xsd:string |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/author | "Triggs-Raine B.L."xsd:string |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/author | "Natowicz M.R."xsd:string |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/author | "Natowicz M.R."xsd:string |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/author | "Chabot T."xsd:string |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/author | "Chabot T."xsd:string |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/author | "Kaback M.M."xsd:string |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/author | "Kaback M.M."xsd:string |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/author | "Lim-Steele J.S.T."xsd:string |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/author | "Lim-Steele J.S.T."xsd:string |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/author | "Prence E.M."xsd:string |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/author | "Prence E.M."xsd:string |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/pages | "1198-1205"xsd:string |
| http://purl.uniprot.org/citations/7902672 | http://purl.uniprot.org/core/pages | "1198-1205"xsd:string |