| http://purl.uniprot.org/citations/8738659 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8738659 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8738659 | http://www.w3.org/2000/01/rdf-schema#comment | "A point mutation in exon 6 of the alpha-galactosidase A gene (alpha-GAL A) was found in a Japanese hemizygous male without typical manifestations of Fabry disease other than renal involvement. This 45-year-old man developed moderate proteinuria and was diagnosed with Fabry disease on the basis of renal histologic findings and prominent decreases in alpha-GAL A activity in his plasma, urine, leukocytes, and skin fibroblasts. Determination of the cDNA sequence of his alpha-GAL A gene revealed substitution of a G to A in codon 301, resulting in a glutamine rather than an arginine residue. Our case is unique in that this patient only demonstrated renal manifestations while all other reported patients with atypical Fabry disease, including a case with the identical point mutation, present with a cardiomyopathy. Direct DNA sequencing of exon 6 and measurement of alpha-GAL A activity among the patient's family confirmed that the mutation was transmitted from his mother."xsd:string |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/author | "Kimura M."xsd:string |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/author | "Kimura M."xsd:string |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/author | "Nishimura K."xsd:string |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/author | "Nishimura K."xsd:string |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/author | "Koide Y."xsd:string |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/author | "Koide Y."xsd:string |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/author | "Sawada K."xsd:string |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/author | "Sawada K."xsd:string |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/author | "Hishida A."xsd:string |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/author | "Hishida A."xsd:string |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/author | "Kaneko E."xsd:string |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/author | "Kaneko E."xsd:string |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/author | "Mizoguchi K."xsd:string |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/author | "Mizoguchi K."xsd:string |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/name | "Clin. Nephrol."xsd:string |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/name | "Clin. Nephrol."xsd:string |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/pages | "289-294"xsd:string |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/pages | "289-294"xsd:string |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/title | "Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy."xsd:string |
| http://purl.uniprot.org/citations/8738659 | http://purl.uniprot.org/core/title | "Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy."xsd:string |