Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with spondyloperipheral dysplasia
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference29 articles.
1. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy);Ahmad;Proc. Natl. Acad. Sci. U. S. A.,1991
2. Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report;Bedeschi;Orphanet J. Rare Dis.,2011
3. A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage;Chan;J. Biol. Chem.,1995
4. Expression of the mouse alpha 1(II) collagen gene is not restricted to cartilage during development;Cheah;Development,1991
5. Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia Torrance type in mother and fetus with the same COL2A1 mutation;Desir;Am. J. Med. Genet. A,2012
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1. De novo mutation in COL2A1 leads to lethal foetal skeletal dysplasia;Bone;2021-12
2. A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head;BMC Medical Genomics;2021-06-04
3. Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia;International Journal of Biological Sciences;2020
4. Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report;BMC Medical Genetics;2016-12
5. Molecular genetics of the COL2A1-related disorders;Mutation Research/Reviews in Mutation Research;2016-04
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