| http://purl.uniprot.org/citations/10208848 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10208848 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10208848 | http://www.w3.org/2000/01/rdf-schema#comment | "Fabry disease (FD) (angiokeratoma corporis diffusum) is an X-linked inborn error of glycosphingolipid metabolism caused by defects in the lysosomal alpha-galactosidase A gene (GLA). The enzymatic defect leads to the systemic accumulation of neutral glycosphingolipids with terminal alpha-galactosyl moieties. Clinically, affected hemizygous males have angiokeratoma, severe acroparesthesia, renal failure, and vasculopathy of the heart and brain. While demonstration of alpha-galactosidase deficiency in leukocytes is diagnostic in affected males, enzymatic detection of female carriers is often inconclusive, due to random X-chromosomal inactivation, underlining the need of molecular investigations for accurate genetic counseling. By use of chemical cleavage of mismatches adapted to fluorescence-based detection systems, we have characterized the mutations underlying alpha-Gal A deficiency in 16 individuals from six unrelated families with FD. The mutational spectrum included five missense mutations (C202W, C223G, N224D, R301Q, and Q327K) and one splice-site mutation [IVS3 G(-1) --> C]. Studies at the mRNA level showed that the latter led to altered pre-mRNA splicing with consequent alteration of the mRNA translational reading frame and generation of a premature termination codon of translation. By use of this strategy, carrier status was accurately assessed in all seven at-risk females tested, whereas enzymatic dosages failed to diagnose or exclude heterozygosity."xsd:string |
| http://purl.uniprot.org/citations/10208848 | http://purl.org/dc/terms/identifier | "doi:10.1006/bbrc.1999.0310"xsd:string |
| http://purl.uniprot.org/citations/10208848 | http://purl.org/dc/terms/identifier | "doi:10.1006/bbrc.1999.0310"xsd:string |
| http://purl.uniprot.org/citations/10208848 | http://purl.uniprot.org/core/author | "Germain D.P."xsd:string |
| http://purl.uniprot.org/citations/10208848 | http://purl.uniprot.org/core/author | "Germain D.P."xsd:string |
| http://purl.uniprot.org/citations/10208848 | http://purl.uniprot.org/core/author | "Poenaru L."xsd:string |
| http://purl.uniprot.org/citations/10208848 | http://purl.uniprot.org/core/author | "Poenaru L."xsd:string |
| http://purl.uniprot.org/citations/10208848 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10208848 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10208848 | http://purl.uniprot.org/core/name | "Biochem. Biophys. Res. Commun."xsd:string |
| http://purl.uniprot.org/citations/10208848 | http://purl.uniprot.org/core/name | "Biochem. Biophys. Res. Commun."xsd:string |
| http://purl.uniprot.org/citations/10208848 | http://purl.uniprot.org/core/pages | "708-713"xsd:string |
| http://purl.uniprot.org/citations/10208848 | http://purl.uniprot.org/core/pages | "708-713"xsd:string |
| http://purl.uniprot.org/citations/10208848 | http://purl.uniprot.org/core/title | "Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches."xsd:string |
| http://purl.uniprot.org/citations/10208848 | http://purl.uniprot.org/core/title | "Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches."xsd:string |
| http://purl.uniprot.org/citations/10208848 | http://purl.uniprot.org/core/volume | "257"xsd:string |
| http://purl.uniprot.org/citations/10208848 | http://purl.uniprot.org/core/volume | "257"xsd:string |
| http://purl.uniprot.org/citations/10208848 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10208848 |
| http://purl.uniprot.org/citations/10208848 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10208848 |
| http://purl.uniprot.org/citations/10208848 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/10208848 |
| http://purl.uniprot.org/citations/10208848 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/10208848 |
| http://purl.uniprot.org/uniprot/P06280 | http://purl.uniprot.org/core/citation | http://purl.uniprot.org/citations/10208848 |
| http://purl.uniprot.org/uniprot/P06280#attribution-AE233632379DF755AE07EE8D6C46BD7A | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/10208848 |