| http://purl.uniprot.org/citations/10189220 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10189220 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10189220 | http://www.w3.org/2000/01/rdf-schema#comment | "The infantile form of GSD II (an inherited deficiency of the lysosomal enzyme, acid alpha-glucosidase, Pompe disease) is a severe and invariably fatal disease characterized by a rapidly progressive generalized hypotonia, hepatomegaly, and cardiomegaly. We have recently demonstrated that African American patients share a common nonsense R854X mutation in exon 18 (Becker et al., 1998). Two other mutations, D645E and M519V, have been identified in individual African American patients (Hermans et al., 1993a; Huie et al., 1994a). We describe here three novel mutations in this population group: a missense W481R in exon 10, a deletion of a T1441 in exon 10, and a splicing defect at the 5' donor site of intron 8 (IVS g+la) . The splicing defect is shared by two unrelated patients and it is linked to intragenic polymorphic sites identical to those found in patients bearing the common R854X mutation."xsd:string |
| http://purl.uniprot.org/citations/10189220 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1098-1004(1999)13:1<83::aid-humu13>3.0.co;2-2"xsd:string |
| http://purl.uniprot.org/citations/10189220 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1098-1004(1999)13:1<83::aid-humu13>3.0.co;2-2"xsd:string |
| http://purl.uniprot.org/citations/10189220 | http://purl.uniprot.org/core/author | "Lee E."xsd:string |
| http://purl.uniprot.org/citations/10189220 | http://purl.uniprot.org/core/author | "Lee E."xsd:string |
| http://purl.uniprot.org/citations/10189220 | http://purl.uniprot.org/core/author | "Lee L."xsd:string |
| http://purl.uniprot.org/citations/10189220 | http://purl.uniprot.org/core/author | "Lee L."xsd:string |
| http://purl.uniprot.org/citations/10189220 | http://purl.uniprot.org/core/author | "Hirschhorn R."xsd:string |
| http://purl.uniprot.org/citations/10189220 | http://purl.uniprot.org/core/author | "Hirschhorn R."xsd:string |
| http://purl.uniprot.org/citations/10189220 | http://purl.uniprot.org/core/author | "Raben N."xsd:string |
| http://purl.uniprot.org/citations/10189220 | http://purl.uniprot.org/core/author | "Raben N."xsd:string |
| http://purl.uniprot.org/citations/10189220 | http://purl.uniprot.org/core/author | "Plotz P.H."xsd:string |
| http://purl.uniprot.org/citations/10189220 | http://purl.uniprot.org/core/author | "Plotz P.H."xsd:string |
| http://purl.uniprot.org/citations/10189220 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10189220 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10189220 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/10189220 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/10189220 | http://purl.uniprot.org/core/pages | "83-84"xsd:string |
| http://purl.uniprot.org/citations/10189220 | http://purl.uniprot.org/core/pages | "83-84"xsd:string |
| http://purl.uniprot.org/citations/10189220 | http://purl.uniprot.org/core/title | "Novel mutations in African American patients with glycogen storage disease Type II."xsd:string |
| http://purl.uniprot.org/citations/10189220 | http://purl.uniprot.org/core/title | "Novel mutations in African American patients with glycogen storage disease Type II."xsd:string |
| http://purl.uniprot.org/citations/10189220 | http://purl.uniprot.org/core/volume | "13"xsd:string |
| http://purl.uniprot.org/citations/10189220 | http://purl.uniprot.org/core/volume | "13"xsd:string |