A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa

2003 ◽  
Vol 309 (1) ◽  
pp. 96-103 ◽  
Author(s):  
Maria Scaturro ◽  
Patrizia Posteraro ◽  
Alessandro Mastrogiacomo ◽  
Maria Letizia Zaccaria ◽  
Naomi De Luca ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Junctional Epidermolysis Bullosa ◽  
Laminin 5

LAMB3 gene mutations in a patient with herlitz junctional epidermolysis bullosa displaying immunoreactivity to laminin-5

1998 ◽  
Vol 16 ◽  
pp. S41
Author(s):  
P. Posteraro ◽  
M. El Hachem ◽  
S. Cicuzza ◽  
G. Meneguzzi ◽  
G. Zambruno ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Gene Mutations ◽  
Junctional Epidermolysis Bullosa ◽  
Laminin 5

Junctional epidermolysis bullosa without pyloric atresia due to a homozygous missense mutation in ITGB4

2018 ◽  
Vol 46 (2) ◽  
pp. e61-e63
Author(s):  
Kenji Yoshida ◽  
Mariko Sadamoto ◽  
Takashi Sasaki ◽  
Akiharu Kubo ◽  
Akira Ishiko
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Pyloric Atresia ◽  
Junctional Epidermolysis Bullosa ◽  
Homozygous Missense Mutation

scholarly journals The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome

2014 ◽  
Vol 134 (3) ◽  
pp. 845-849 ◽  
Author(s):  
Cristina Has ◽  
Dimitra Kiritsi ◽  
Jemima E. Mellerio ◽  
Claus-Werner Franzke ◽  
Emma Wedgeworth ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Junctional Epidermolysis Bullosa ◽  
Kindler Syndrome ◽  
Xvii Collagen

Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease

2004 ◽  
Vol 116 (1-2) ◽  
pp. 33-42 ◽  
Author(s):  
Christiane M�hle ◽  
Qiu-Jie Jiang ◽  
Alexandra Charlesworth ◽  
Leena Bruckner-Tuderman ◽  
Guerrino Meneguzzi ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Molecular Basis ◽  
Clinical Course ◽  
Junctional Epidermolysis Bullosa ◽  
Laminin 5 ◽  
Recurrent Mutations

A Homozygous Nonsense Mutation in the β3 Chain Gene of Laminin 5 (LAMB3) in Herlitz Junctional Epidermolysis Bullosa

Genomics ◽  
1994 ◽  
Vol 24 (2) ◽  
pp. 357-360 ◽  
Author(s):  
Leena Pulkkinen ◽  
Angela M. Christiano ◽  
Donald Gerecke ◽  
D.Wolfe Wagman ◽  
Robert E. Burgeson ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Nonsense Mutation ◽  
Chain Gene ◽  
Junctional Epidermolysis Bullosa ◽  
Laminin 5 ◽  
Homozygous Nonsense Mutation

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes

2001 ◽  
Vol 110 (1) ◽  
pp. 41-51 ◽  
Author(s):  
Aoi Nakano ◽  
Sheau-Chiou Chao ◽  
Leena Pulkkinen ◽  
Dedee Murrell ◽  
Leena Bruckner-Tuderman ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Molecular Basis ◽  
Junctional Epidermolysis Bullosa ◽  
Laminin 5
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