scholarly journals G28 A Novel Missense Mutation in Keratin 1 Underlying Clinically Mild Epidermolytic Ichthyosis Mimicking Epidermolysis Bullosa Simplex Superficialis

2013 ◽  
Vol 98 (Suppl 1) ◽  
pp. A17-A18
Author(s):  
A. MacKenzie ◽  
P. Dopping-Hepenstal ◽  
L. Ozoemena ◽  
L. Liu ◽  
K. Stone ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Epidermolytic Ichthyosis ◽  
Keratin 1

Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to val in Linker 12 domin of keratin 5

1995 ◽  
Vol 4 (10) ◽  
pp. 1999-2000 ◽  
Author(s):  
Masato Matsuki ◽  
Kohji Hashimoto ◽  
Kunihlko Yoshikawa ◽  
Hirokazu Yasuno ◽  
Kiyofuml Yamanishi
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5

K5 D328E: A Novel Missense Mutation in the Linker 12 Domain of Keratin 5 Associated with Epidermolysis bullosa simplex (Weber-Cockayne)

2000 ◽  
Vol 50 (4) ◽  
pp. 234-236 ◽  
Author(s):  
Mirjana Liovic ◽  
Bozana Podrumac ◽  
Vlasta Dragos ◽  
Katja Vouk ◽  
Radovan Komel
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex

1993 ◽  
Vol 3 (4) ◽  
pp. 327-332 ◽  
Author(s):  
A. Hovnanian ◽  
E. Pollack ◽  
L. Hilal ◽  
A. Rochat ◽  
C. Prost ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 14

Novel missense mutation c.539A>G; p.Glu180Gly in keratin 1 causing epidermolytic ichthyosis

2021 ◽  
Author(s):  
Miho Sashikawa ◽  
Hidetoshi Tsuda ◽  
Mayumi Komine ◽  
Mamitaro Ohtsuki
Keyword(s):  
Missense Mutation ◽  
Epidermolytic Ichthyosis ◽  
Keratin 1
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