Linked Life Data

12204008

Source:http://linkedlifedata.com/resource/pubmed/id/12204008

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2002-8-30
pubmed:abstractText
We describe a novel type of mutation in the COL2A1 gene in a family with Stickler syndrome, namely a deletion of an entire COL2A1 allele. Until now, almost all COL2A1 mutations found in this syndrome are nucleotide substitutions, small deletions, or insertions, resulting in premature translation termination. Since the phenotype in this family is not different from cases with a truncated alpha-chain, our finding supports the suggestion that a dosage effect is underlying Stickler syndrome. Moreover, in mutation screening protocols for COL2A1 one should be aware of the possibility of large deletions, which are not detected by generally used PCR-based methods.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1098-1004
pubmed:author
pubmed:copyrightInfo
Copyright 2002 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:volume
20
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
236
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.
pubmed:affiliation
Department of Clinical Genetics, University Hospital, Groningen, The Netherlands.
pubmed:publicationType
Journal Article