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De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly

✍ Scribed by Yuriko Yoneda; Kazuhiro Haginoya; Hiroshi Arai; Shigeo Yamaoka; Yoshinori Tsurusaki; Hiroshi Doi; Noriko Miyake; Kenji Yokochi; Hitoshi Osaka; Mitsuhiro Kato; Naomichi Matsumoto; Hirotomo Saitsu


Book ID
113423142
Publisher
American Society of Human Genetics
Year
2012
Tongue
English
Weight
551 KB
Volume
90
Category
Article
ISSN
0002-9297

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A de novo G+1 → a mutation at the α2(I)
✍ Jane D. Filie; Bonnie M. Orrison; Qin Wang; Mary Beth Lewis; Joan C. Marini 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 839 KB

Communicaced by Chrles 1. Epsrein We have investigated the procollagen, collagen, a2(I) mRNA, and DNA of a proband with type IV 01. The proband synthesized two a 2 ( I) chains, one with normal electrophoretic migration and one more rapidly migrating. The fast a 2 ( I ) chain was relatively retained