scholarly journals A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia

2017 ◽  
Vol 97 (9) ◽  
pp. 1114-1119 ◽  
Author(s):  
E Kim ◽  
A Harris ◽  
L Bingham ◽  
W Yan ◽  
J Su ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Novel Mutations

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
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