A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities

Osteogenesis imperfecta (OI) is a heterogeneous disorder that is characterized by bone fragility and systemic complications, and is mainly caused by gene mutations in COL1A1 or COL1A2. A novel COL1A1 splicing mutation, c.750+2T>A, was identified in a Japanese OI family. Only the proband in this f...

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Bibliographic Details
Published in:Hum Genome Var
Main Authors: Seto, Toshiyuki, Yamamoto, Toshiyuki, Shimojima, Keiko, Shintaku, Haruo
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2017
Subjects:
Data Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5352948/
https://ncbi.nlm.nih.gov/pubmed/28326186
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.7
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