The South African “Bathing Suit Ichthyosis” Is a Form of Lamellar Ichthyosis Caused by a Homozygous Missense Mutation, p.R315L, in Transglutaminase 1-Reference-Cited by-同舟云学术

The South African “Bathing Suit Ichthyosis” Is a Form of Lamellar Ichthyosis Caused by a Homozygous Missense Mutation, p.R315L, in Transglutaminase 1

Published:2007-02 Issue:2 Volume:127 Page:490-493
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Arita Ken,Jacyk Witold K.,Wessagowit Vesarat,van Rensburg Elizabeth Jansen,Chaplin Tracy,Mein Charles A.,Akiyama Masashi,Shimizu Hiroshi,Happle Rudolf,McGrath John A.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

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3. Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene;Cserhalmi-Friedman;Br J Dermatol,2001

4. Mutations of keratinocyte transglutaminase in lamellar ichthyosis;Huber;Science,1995

5. Consequences of seven novel mutations on the expression and structure of keratinocyte transglutaminase;Huber;J Biol Chem,1997

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