Linked Life Data

12792737

Source:http://linkedlifedata.com/resource/pubmed/id/12792737

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2003-6-6
pubmed:abstractText
Mutations in the cartilage oligomeric matrix protein (COMP) gene cause two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), which are autosomal dominant disorders characterized by short-limb dwarfism. We report novel mutations of the COMP gene identified in two sporadic Japanese cases of PSACH. One had a novel single base substitution in exon 9, resulting in a missense mutation of Gly309Arg in the second type 3 repeat of COMP protein. The other patient had no mutations in any of the exonic sequences of the gene, but she did have a novel base substitution in intron 13. Although this mutation was not located in the conserved sequences for splicing donor and acceptor sites, it might disturb the precise splicing of the COMP transcripts, resulting in the production of abnormal protein with defective last type 3 repeat and/or C-terminal domain.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1021-335X
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
871-3
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:articleTitle
Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia.
pubmed:affiliation
Department of Orthopedic Surgery, Fukushima Medical University School of Medicine, 1-Hikarigaoka, Fukushima 960-1295, Japan.
pubmed:publicationType
Journal Article, Case Reports