Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14

2017 ◽  
Vol 177 (1) ◽  
pp. 262-264 ◽  
Author(s):  
E. Kim ◽  
A. Harris ◽  
V. Hyland ◽  
D.F. Murrell
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Novel Mutations ◽  
Digenic Inheritance

scholarly journals Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations

2003 ◽  
Vol 21 (4) ◽  
pp. 447-447 ◽  
Author(s):  
Petra H.L. Schuilenga-Hut ◽  
Pieter v.d. Vlies ◽  
Marcel F. Jonkman ◽  
Esm� Waanders ◽  
Charles H.C.M. Buys ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Novel Mutations ◽  
Keratin 5

scholarly journals Epidermolysis Bullosa Simplex Associated with Severe Mucous Membrane Involvement and Novel Mutations in the Plectin Gene

2000 ◽  
Vol 114 (2) ◽  
pp. 376-380 ◽  
Author(s):  
Manfred Kunz ◽  
Henning Hamm ◽  
Eva-Bettina Bröcker ◽  
Detlef Zillikens ◽  
Fatima Rouan ◽  
...  
Keyword(s):  
Mucous Membrane ◽  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Novel Mutations

Digenic inheritance of KRT5 and KRT14 mutations in a family with epidermolysis bullosa simplex

2020 ◽  
Vol 61 (2) ◽  
Author(s):  
Yueqian Yu ◽  
Zihao Mi ◽  
Xi'an Fu ◽  
Zhenzhen Wang ◽  
Lele Sun ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Digenic Inheritance

scholarly journals Digenic Inheritance in Epidermolysis Bullosa Simplex

2012 ◽  
Vol 132 (12) ◽  
pp. 2852-2854 ◽  
Author(s):  
Gilly Padalon-Brauch ◽  
Dani Ben Amitai ◽  
Dan Vodo ◽  
Avikam Harel ◽  
Ofer Sarig ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Digenic Inheritance
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