Some, but Not All, Glycine Substitution Mutations in COL7A1 Result in Intracellular Accumulation of Collagen VII, Loss of Anchoring Fibrils, and Skin Blistering.

HAMMAMI-HAUASLI N; SCHUMANN H; RAGHUNATH M; KILGUS O; LUETHI U; LUGER T; BRUCKNER-TUDERMAN L

Art

J-GLOBAL ID：200902163891638114 Reference number：98A0783106

Some, but Not All, Glycine Substitution Mutations in COL7A1 Result in Intracellular Accumulation of Collagen VII, Loss of Anchoring Fibrils, and Skin Blistering.

COL7A1における全部ではない,幾つかのグリシン置換変異はコラーゲンVIIの細胞内蓄積,固定原線維の消失と皮膚水ほう形成を生じる

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Material：
Volume： 273 Issue： 30 Page： 19228-19234 Publication year： Jul. 24, 1998
JST Material Number： E0038A ISSN： 0021-9258 CODEN： JBCHA3 Document type： Article
Article type：原著論文 Country of issue： United States (USA) Language： ENGLISH (EN)

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Congenital diseases,deformities in general. , Biological function

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