Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta

被引：0
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作者：
Katre Maasalu
Tiit Nikopensius
Sulev Kõks
Margit Nõukas
Mart Kals
Ele Prans
Lidiia Zhytnik
Andres Metspalu
Aare Märtson
机构：
[1] University of Tartu,Clinic of Traumatology and Orthopaedics
[2] Tartu University Hospital,Clinic of Traumatology and Orthopaedics
[3] University of Tartu,Estonian Genome Centre
[4] University of Tartu,Institute of Molecular and Cell Biology
[5] University of Tartu,Department of Pathophysiology
[6] Estonian Biocentre,undefined
来源：
Human Genomics | / 9卷
关键词：
Osteogenesis imperfecta; Type I collagen; OI genotype–phenotype; mutation;
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