scholarly journals Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex

2020 ◽  
Vol 100 (15) ◽  
pp. adv00242
Author(s):  
W Tu ◽  
P Chen ◽  
P Hou ◽  
H Huang ◽  
J Wang ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Autosomal Recessive ◽  
Epidermolysis Bullosa Simplex

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

Autosomal recessive epidermolysis bullosa simplex: report of three cases from India

2017 ◽  
Vol 42 (7) ◽  
pp. 800-803 ◽  
Author(s):  
V. K. Yenamandra ◽  
K. V. Shamsudheen ◽  
R. C. Madhumita ◽  
J. Rijith ◽  
V. Ankit ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Autosomal Recessive ◽  
Epidermolysis Bullosa Simplex

Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait

2014 ◽  
Vol 172 (2) ◽  
pp. 527-531 ◽  
Author(s):  
T. Takeichi ◽  
A. Nanda ◽  
L. Liu ◽  
S. Aristodemou ◽  
J.R. McMillan ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Autosomal Recessive ◽  
Founder Mutation ◽  
Epidermolysis Bullosa Simplex

scholarly journals Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex

2015 ◽  
Vol 24 (11) ◽  
pp. 3155-3162 ◽  
Author(s):  
Katarzyna B. Gostyńska ◽  
Miranda Nijenhuis ◽  
Henny Lemmink ◽  
Hendri H. Pas ◽  
Anna M.G. Pasmooij ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Autosomal Recessive ◽  
Epidermolysis Bullosa Simplex
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