Journal article

Mutations of COL10A1 in schmid metaphyseal chondrodysplasia

JF Bateman, R Wilson, S Freddi, SR Lamande, R Savarirayan

Human Mutation | WILEY | Published : 2005

DOI: 10.1002/humu.20183

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Keywords

Osteogenesis Imperfecta
Smcd
Child, Preschool
Noncollagenous Domain
Molecular Sequence Data
Science & Technology
Life Sciences & Biomedicine
Humans
Messenger-Rna Decay
Schmid Metaphyseal Chondrodysplasia
Spondylometaphyseal Dysplasia
Mutation
Models, Molecular
Carboxyl-Terminal Domain
Unfolded Protein Response
In-Vitro
Collagen Gene Col10a1
Transfected Cells
Col10a1
Collagen Type X
Osteochondrodysplasias
Radiography
Child
Cartilage
X Collagen
Collagen X
Genetics & Heredity