| http://purl.uniprot.org/citations/7683951 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7683951 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7683951 | http://www.w3.org/2000/01/rdf-schema#comment | "We investigated the proteolipid protein (PLP) gene of two boys in a Japanese family with Pelizaeus-Merzbacher disease (PMD), an X-linked neurologic disorder characterized by dysmyelination in the central nervous system (CNS). The patients showed similar clinical signs from birth and autopsy on the elder brother confirmed a connatal type of PMD. Direct sequencing of the PLP gene and PLP mRNAs from the brain of the PMD patient revealed a G to T transition in exon V of the PLP gene, which leads to a glycine to cysteine substitution at residue 220. Allele-specific oligonucleotide hybridization revealed that this mutation was also present in his brother, but was absent in 100 X chromosomes of normal Japanese individuals. Northern blot analysis showed that the mRNA levels of PLP and myelin basic protein, two major myelin proteins produced by oligodendrocytes, were much reduced in the PMD brain, hence, there was a specific loss of oligodendrocytes. It seems likely that the substitution is responsible for PMD (connatal type) in this particular family and causes oligodendrocytes death in the CNS."xsd:string |
| http://purl.uniprot.org/citations/7683951 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/2.1.19"xsd:string |
| http://purl.uniprot.org/citations/7683951 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/2.1.19"xsd:string |
| http://purl.uniprot.org/citations/7683951 | http://purl.uniprot.org/core/author | "Muramoto T."xsd:string |
| http://purl.uniprot.org/citations/7683951 | http://purl.uniprot.org/core/author | "Muramoto T."xsd:string |
| http://purl.uniprot.org/citations/7683951 | http://purl.uniprot.org/core/author | "Fukumaki Y."xsd:string |
| http://purl.uniprot.org/citations/7683951 | http://purl.uniprot.org/core/author | "Fukumaki Y."xsd:string |
| http://purl.uniprot.org/citations/7683951 | http://purl.uniprot.org/core/author | "Iwaki A."xsd:string |
| http://purl.uniprot.org/citations/7683951 | http://purl.uniprot.org/core/author | "Iwaki A."xsd:string |
| http://purl.uniprot.org/citations/7683951 | http://purl.uniprot.org/core/author | "Tateishi J."xsd:string |
| http://purl.uniprot.org/citations/7683951 | http://purl.uniprot.org/core/author | "Tateishi J."xsd:string |
| http://purl.uniprot.org/citations/7683951 | http://purl.uniprot.org/core/author | "Dario-Deleon M.L."xsd:string |
| http://purl.uniprot.org/citations/7683951 | http://purl.uniprot.org/core/author | "Dario-Deleon M.L."xsd:string |
| http://purl.uniprot.org/citations/7683951 | http://purl.uniprot.org/core/author | "Furumi H."xsd:string |
| http://purl.uniprot.org/citations/7683951 | http://purl.uniprot.org/core/author | "Furumi H."xsd:string |
| http://purl.uniprot.org/citations/7683951 | http://purl.uniprot.org/core/author | "Iwaki I."xsd:string |
| http://purl.uniprot.org/citations/7683951 | http://purl.uniprot.org/core/author | "Iwaki I."xsd:string |
| http://purl.uniprot.org/citations/7683951 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/7683951 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/7683951 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/7683951 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/7683951 | http://purl.uniprot.org/core/pages | "19-22"xsd:string |
| http://purl.uniprot.org/citations/7683951 | http://purl.uniprot.org/core/pages | "19-22"xsd:string |