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P1.19 Mutational spectrum and clinical features of Korean patients with dysferlinopathy

โœ Scribed by Y.E. Park; J.W. Yook; H.S. Kim; Y.C. Choi; D.S. Kim


Book ID
116794464
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
48 KB
Volume
20
Category
Article
ISSN
0960-8966

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## Communicated by Richard G.H. Cotton Mutations in the type I collagen genes COL1A1 and COL1A2 are responsible for the dominantly inherited connective tissue disorder osteogenesis imperfecta (OI). The severity of OI is diverse, ranging from perinatal lethality to a very mild phenotype that is cha