Expression of a mutated allele, non-reduced by aging, in a Japanese family with localized epidermolysis bullosa simplex due to a novel mutation, p.Arg169Gly, of keratin 5 gene

2013 ◽  
Vol 23 (2) ◽  
pp. 267-269 ◽  
Author(s):  
Keiichi Uchiyama ◽  
Gen Nakanishi ◽  
Noriki Fujimoto ◽  
Hajime Nakano ◽  
Daisuke Sawamura ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Novel Mutation ◽  
Epidermolysis Bullosa Simplex ◽  
Japanese Family ◽  
Keratin 5

scholarly journals A Novel Mutation in the L12 Domain of Keratin 5 in the Köbner Variant of Epidermolysis Bullosa Simplex

1998 ◽  
Vol 111 (3) ◽  
pp. 524-527 ◽  
Author(s):  
Philippa Galligan ◽  
Pawel Listwan ◽  
Gregory M. Siller ◽  
Joseph A. Rothnagel
Keyword(s):  
Epidermolysis Bullosa ◽  
Novel Mutation ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5

Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with Köbner-type epidermolysis bullosa simplex

2006 ◽  
Vol 33 (10) ◽  
pp. 692-695 ◽  
Author(s):  
Hidehisa SAEKI ◽  
Kensuke NAKAMURA ◽  
Yuichiro TSUNEMI ◽  
Mayumi KOMINE ◽  
Kunihiko TAMAKI
Keyword(s):  
Epidermolysis Bullosa ◽  
Japanese Patient ◽  
Novel Mutation ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5

A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema

2020 ◽  
Vol 37 (2) ◽  
pp. 358-361
Author(s):  
Basak Yalici‐Armagan ◽  
Serkan Kabacam ◽  
Zihni Ekim Taskiran ◽  
Özay Gököz ◽  
Gülen Eda Utine ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Novel Mutation ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5

scholarly journals A Novel Mutation in the Helix Termination Peptide of Keratin 5 Causing Epidermolysis Bullosa Simplex Dowling–Meara

1997 ◽  
Vol 109 (6) ◽  
pp. 815-816 ◽  
Author(s):  
Alan D. Irvine ◽  
Kevin E. McKenna ◽  
Anne Bingham ◽  
Norman C. Nevin ◽  
Anne E. Hughes
Keyword(s):  
Epidermolysis Bullosa ◽  
Novel Mutation ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5
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