A Frameshift Mutation within LAMC2 Is Responsible for Herlitz Type Junctional Epidermolysis Bullosa (HJEB) in Black Headed Mutton Sheep-Reference-Cited by-同舟云学术

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A Frameshift Mutation within LAMC2 Is Responsible for Herlitz Type Junctional Epidermolysis Bullosa (HJEB) in Black Headed Mutton Sheep

Published:2011-05-04 Issue:5 Volume:6 Page:e18943
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Mömke Stefanie,Kerkmann Andrea,Wöhlke Anne,Ostmeier Miriam,Hewicker-Trautwein Marion,Ganter Martin,Kijas James,Distl Ottmar,

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference24 articles.

1. Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.;A Nakano;Hum Genet,2002

2. Pathogenesis of mechanobullous disorders.;L Bruckner-Tuderman;Exp Dermatol,1992

3. Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition.;D Castiglia;J Invest Dermatol,2001

4. Biological function of laminin-5 and pathogenic impact of its deficieny.;H Schneider;Eur J Cell Biol,2007

5. Animal models for skin blistering conditions: absence of laminin 5 causes hereditary junctional mechanobullous disease in the Belgian horse.;F Spirito;J Invest Dermatol,2002

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1. Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa;Genes;2023-09-22

2. Bayesian genomic prediction of junctional epidermolysis bullosa in sheep;TURKISH JOURNAL OF VETERINARY AND ANIMAL SCIENCES;2021

3. A novel homozygous nonsense mutation in ITGB4 gene causes epidermolysis bullosa in Mouton Vendéen sheep;Animal Genetics;2020-11-22

4. A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex;Journal of Veterinary Internal Medicine;2020-11

5. Genetic Tests for Large Animals;Large Animal Internal Medicine;2020

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