Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry,Biophysics
Reference14 articles.
1. COL2A1–related skeletal dysplasias with predominant metaphyseal involvement;Walter;Am. J. Med. Genet Part A,2007
2. Nosology and Classification of Genetics Skeletal Disorders: 2006 Revision;Superti-Furga;Am. J. Med. Genet. Part A,2007
3. Czech dysplasia metatarsal type: another type II collagen disorder;Hoornaert;Eur. J. Hum. Genet.,2007
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