Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia
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چکیده
منابع مشابه
Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia.
Spondyloepiphyseal dysplasia (SED) is an autosomal dominant skeletal dysplasia characterized by short stature, abnormal epiphyses and flattened vertebral bodies. SED is mainly caused by mutations in the gene encoding the type II procollagen α-1 chain (COL2A1). We looked for mutations in COL2A1 in three unrelated Chinese families with SED. Putative mutations were confirmed by RFLP analysis. We i...
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BACKGROUND Mutations in the COL2A1 gene cause type II collagenopathies characterized by skeletal dysplasia with a wide spectrum of phenotypic severity. Most COL2A1 mutations located in the triple-helical region, and the glycine to bulky amino acid substitutions (e.g., glycine to serine) in the Gly-X-Y repeat were identified frequently. However, the same COL2A1 mutations are associated with diff...
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ژورنال
عنوان ژورنال: Genetics and Molecular Research
سال: 2012
ISSN: 1676-5680
DOI: 10.4238/2012.september.27.1