Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfect
IBJ-Iranian Biomedical Journal. 2017; 21 (5): 338-341
in English
| IMEMR
| ID: emr-188491
ABSTRACT
Background:
Osteogenesis imperfecta [Ol] is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of Ol
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Sequence Analysis
/
Consanguinity
/
Mutation, Missense
/
Collagen Type I
/
Siblings
/
Genetic Counseling
Limits:
Humans
Language:
English
Journal:
Iran. Biomed. J.
Year:
2017
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