Linked Life Data

7924138

Source:http://linkedlifedata.com/resource/pubmed/id/7924138

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1994-11-17
pubmed:abstractText
Recent work has demonstrated that more than 90% of patients with osteogenesis imperfecta (OI) have mutations in the gene for either the pro alpha 1 (I) chain or the gene for the pro alpha 2 (I) chain of type I procollagen. Three molecular mechanisms have explained the devastating effects of these mutations. In addition, the data provide several general conclusions about mutations in collagen genes. Studies in cell cultures with antisense oligonucleotides and studies in transgenic mice with an antisense gene raised the possibility that several strategies eventually may be developed to treat OI by converting severe forms of the disease to milder forms.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0094-1298
pubmed:author
pubmed:issnType
Print
pubmed:volume
21
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
407-13
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Molecular basis of osteogenesis imperfecta and related disorders of bone.
pubmed:affiliation
Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Review, Research Support, Non-U.S. Gov't