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

scholarly journals Easy Method for Keratin 14 Gene Amplification to Exclude Pseudogene Sequences: New Keratin 5 and 14 Mutations in Epidermolysis Bullosa Simplex

2009 ◽  
Vol 129 (1) ◽  
pp. 229-231 ◽  
Author(s):  
Annamária Glász-Bóna ◽  
Márta Medvecz ◽  
Rachel Sajó ◽  
Réka Lepesi-Benkő ◽  
Zsolt Tulassay ◽  
...  
Keyword(s):  
Gene Amplification ◽  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Easy Method ◽  
Keratin 5 ◽  
Keratin 14

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

scholarly journals Novel keratin 5 mutation in a family with epidermolysis bullosa simplex

2015 ◽  
Vol 10 (6) ◽  
pp. 2432-2436
Author(s):  
JIAJIA GAO ◽  
XUEBIN WANG ◽  
FANG ZHENG ◽  
SUFANG DONG ◽  
XUEPING QIU
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5

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

Generalized, severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation

2019 ◽  
Vol 36 (6) ◽  
pp. 1007-1009 ◽  
Author(s):  
Sarah E. Sheppard ◽  
Laura Elizabeth Anderson ◽  
Cathryn Sibbald ◽  
Colleen Cotton ◽  
Elizabeth Bhoj ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5

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

Epidermolysis bullosa simplex: greater penetrance due to a keratin 5 gene variant

2013 ◽  
Vol 39 (1) ◽  
pp. 80-81 ◽  
Author(s):  
M. Jantke ◽  
C. Has ◽  
H. A. Haenssle ◽  
M. P. Schön ◽  
S. Emmert
Keyword(s):  
Epidermolysis Bullosa ◽  
Gene Variant ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5

scholarly journals A Mutation in the V1 Domain of Keratin 5 Causes Epidermolysis Bullosa Simplex with Mottled Pigmentation

1997 ◽  
Vol 108 (5) ◽  
pp. 809-810 ◽  
Author(s):  
Alan D. Irvine ◽  
Kevin E. McKenna ◽  
Hilary Jenkinson ◽  
Anne E. Hughes
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5
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