Linked Life Data

11708863

Source:http://linkedlifedata.com/resource/pubmed/id/11708863

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2001-11-15
pubmed:abstractText
A single-base mutation resulting in an arginine-519-cysteine (R519C) mutation of type II procollagen (COL2A1) has been shown to result in precocious osteoarthritis with mild spinal chondrodysplasia without severe foreshortening (OMIM 604864). The nature of childhood disease among affected individuals has not been described. The recent presentation of four children with this mutation allows us to provide clinical correlation. This form of premature osteoarthritis may present in childhood and should be considered in the differential diagnosis of childhood arthropathy presenting in the context of a positive family history.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1096-7192
pubmed:author
pubmed:copyrightInfo
Copyright 2001 Academic Press.
pubmed:issnType
Print
pubmed:volume
74
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
338-41
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
Osteoarthritis in children associated with a mutation in the type II procollagen gene (COL2A1).
pubmed:affiliation
Shriners Hospital for Children, 1900 Richmond Road, Lexington, KY 40502, USA. rjmier@aol.com
pubmed:publicationType
Journal Article, Case Reports