Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14

2002 ◽  
Vol 43 (1) ◽  
pp. 28-34 ◽  
Author(s):  
Champi Premaratne ◽  
Sandra Klingberg ◽  
Ian Glass ◽  
Kellie Wright ◽  
Dédée Murrell
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Cysteine Substitution ◽  
Keratin 14 ◽  
Exon 1

A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex

1999 ◽  
Vol 141 (4) ◽  
pp. 747-748 ◽  
Author(s):  
Sasaki ◽  
Shimizu ◽  
Akiyama ◽  
Hiraoka ◽  
Takizawa ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 14

Mutation Report. Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex

2004 ◽  
Vol 13 (3) ◽  
pp. 185-191 ◽  
Author(s):  
Marta Csikos ◽  
Zsuzsanna Szalai ◽  
Krisztina Becker ◽  
Bela Sebok ◽  
Imre Schneider ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Gene Mutations ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 14

Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5

2020 ◽  
Vol 29 (10) ◽  
pp. 961-969
Author(s):  
Mbarka Bchetnia ◽  
Jean‐Pascal Allard ◽  
Anne‐Marie Boucher‐Lafleur ◽  
Tania Cruz Marino ◽  
Audrey Dupéré ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5 ◽  
Keratin 14
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