| http://purl.uniprot.org/citations/7684886 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7684886 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7684886 | http://www.w3.org/2000/01/rdf-schema#comment | "The purpose of this study was to confirm linkage of the proteolipid protein gene (PLP) and Pelizaeus-Merzbacher disease (PMD). A T-->A transversion in nucleotide pair 35 of exon 4 of PLP was found in a large Finnish kindred with PMD. This mutation results in the substitution Val165-->Glu165. We used a combination of single-strand conformational polymorphism and PCR primer extension to determine the presence or absence of the point mutation in family members. A lod score of 2.6 (theta = 0) was found for linkage of the gene and the disease. We examined 101 unrelated X chromosomes and found none with the transversion. This is the second report of linkage of PMD to a missense mutation in PLP. These findings support the hypothesis that PMD in this family is a result of the missense mutation present in exon 4 of PLP."xsd:string |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/author | "Kiefer J.R."xsd:string |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/author | "Kiefer J.R."xsd:string |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/author | "Hodes M.E."xsd:string |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/author | "Hodes M.E."xsd:string |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/author | "Schleutker J."xsd:string |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/author | "Schleutker J."xsd:string |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/author | "Pratt V.M."xsd:string |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/author | "Pratt V.M."xsd:string |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/author | "Dlouhy S.R."xsd:string |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/author | "Dlouhy S.R."xsd:string |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/author | "Lahdetie J."xsd:string |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/author | "Lahdetie J."xsd:string |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/pages | "1053-1056"xsd:string |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/pages | "1053-1056"xsd:string |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/title | "Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred."xsd:string |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/title | "Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred."xsd:string |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/volume | "52"xsd:string |
| http://purl.uniprot.org/citations/7684886 | http://purl.uniprot.org/core/volume | "52"xsd:string |