Dominant and Recessive Compound Heterozygous Mutations in Epidermolysis Bullosa Simplex Demonstrate the Role of the Stutter Region in Keratin Intermediate Filament Assembly.

YASUKAWA K; SAWAMURA D; MCMILLAN J R; NAKAMURA H; SHIMIZU H

Art

J-GLOBAL ID：200902112948490913 Reference number：02A0624995

Dominant and Recessive Compound Heterozygous Mutations in Epidermolysis Bullosa Simplex Demonstrate the Role of the Stutter Region in Keratin Intermediate Filament Assembly.

単純型先天性表皮水ほう症における優性と劣性の混成ヘテロ接合体変異はケラチン中間径フィラメント集合におけるスタッター領域の役割を証明する

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Author (5)： , , , ,
Material：
Volume： 277 Issue： 26 Page： 23670-23674 Publication year： Jun. 28, 2002
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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Biological function , Congenital diseases,deformities in general.

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