COL1A2 gene analysis in a Czech osteogenesis imperfecta patient: a candidate novel mutation in a pat...
COL1A2 gene analysis in a Czech osteogenesis imperfecta patient: a candidate novel mutation in a patient affected by osteogenesis imperfecta type 3
About this item
Full title
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Publisher
Macclesfield: Taylor & Francis Ltd
Journal title
Language
English
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Publisher
Macclesfield: Taylor & Francis Ltd
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Scope and Contents
Contents
Osteogenesis imperfecta is a heritable bone fragility disease with a heterogenic genetic origin. Most cases result from mutations of either the COL1A1 gene or the COL1A2 gene. We identified a novel COL1A2 gene mutation in a Czech patient, born to unaffected parents, who was diagnosed according to clinical and anthropometric findings and radiographi...
Alternative Titles
Full title
COL1A2 gene analysis in a Czech osteogenesis imperfecta patient: a candidate novel mutation in a patient affected by osteogenesis imperfecta type 3
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TN_cdi_proquest_journals_2223308253
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2223308253
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ISSN
1179-9870
E-ISSN
1179-9870
DOI
10.2147/AGG.S58766
