A Compound Heterozygous One Amino-Acid Insertion/Nonsense Mutation in the Plectin Gene Causes Epidermolysis Bullosa Simplex with Plectin Deficiency-Reference-Cited by-同舟云学术

A Compound Heterozygous One Amino-Acid Insertion/Nonsense Mutation in the Plectin Gene Causes Epidermolysis Bullosa Simplex with Plectin Deficiency

Published:2001-02 Issue:2 Volume:158 Page:617-625
ISSN:0002-9440
Container-title:The American Journal of Pathology
language:en
Short-container-title:The American Journal of Pathology

Author:

Bauer Johann W.,Rouan Fatima,Kofler Barbara,Rezniczek Günther A.,Kornacker Iris,Muss Wolfgang,Hametner Rudolf,Klausegger Alfred,Huber Ariana,Pohla-Gubo Gabriele,Wiche Gerhard,Uitto Jouni,Hintner Helmut

Publisher

Elsevier BV

Subject

Pathology and Forensic Medicine

Reference29 articles.

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3. Role of plectin in cytoskeleton organization and dynamics;Wiche;J Cell Sci,1998

4. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa;Smith;Nat Genet,1996

5. Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture;Andrä;Genes Dev,1997

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