Linked Life Data

19024090

Source:http://linkedlifedata.com/resource/pubmed/id/19024090

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
17
pubmed:dateCreated
2008-11-21
pubmed:abstractText
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with symptoms including nystagmus, impaired motor development, ataxia, and progressive spasticity. The proteolipid protein 1 (PLP1) gene is the only pathogenic gene of PMD. Duplication of the PLP1 gene is the most frequent gene defect, accounting for 50%-70% of PMD cases, whereas point mutations in the coding sequence or the splice sites account for 10%-25% of PMD cases. This study aimed to identify PLP1 mutations in nine unrelated Chinese patients (P1-9) with PMD, and 14 subjects from the family of patient 2 were also described.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0366-6999
pubmed:author
pubmed:issnType
Print
pubmed:day
5
pubmed:volume
121
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1638-42
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.
pubmed:affiliation
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural