21912751

Source:http://linkedlifedata.com/resource/pubmed/id/21912751

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0029434, umls-concept:C0443147, umls-concept:C2717879
pubmed:dateCreated	2011-9-13
pubmed:abstractText	Osteogenesis imperfecta, discussed in Baldridge et al. 2008 is an inherited bone fragility disorder with a wide range of clinical severity that in the majority of cases is caused by mutations in COL1A1 or COL1A2, the genes that encode the two collagen type I alpha chains. Here we describe genotype-phenotype correlations in OI patients who have mutations affecting collagen type I. This paper is based on findings in a large single-centre OI population and a review of the literature.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/101538878
pubmed:status	PubMed-not-MEDLINE
pubmed:issn	2042-0064
pubmed:author	pubmed-author:Ben AmorI MounaIM, pubmed-author:GlorieuxFrancis HFH, pubmed-author:RauchFrankF
pubmed:issnType	Electronic
pubmed:volume	2011
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	540178
pubmed:year	2011
pubmed:articleTitle	Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta.
pubmed:affiliation	Shriners Hospital for Children and McGill University, Montreal, QC, Canada H3G 1A6.
pubmed:publicationType	Journal Article