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Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I

โœ Scribed by Woo, Hye In; Ki, Chang-Seok; Lee, Soo-Youn; Kim, Jong-Won; Song, Junghan; Jin, Dong-Kyu; Park, Won Soon; Lee, Dong Hwan; Lee, Yong-Wha; Park, Hyung-Doo

Book ID
122503868
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
235 KB
Volume
46
Category
Article
ISSN
0009-9120

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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