Article
Integrin alpha 6 homozygous splice-site mutation causes a new form of junctional epidermolysis bullosa in Charolais cattle.
Genetics, selection, evolution : GSE - 12 Jun 2023
Boussaha Mekki, Boulling Arnaud, Wolgust Valérie, Bourgeois-Brunel Lorraine, Michot Pauline, Grohs Cécile, Gaiani Nicolas, Grivaud Pierre-Yves, Leclerc Hélène, Danchin-Burge Coralie, Vilotte Marthe, Rivière Julie, Boichard Didier, Gourreau Jean-Marie, Capitan Aurélien
Abstract excerpt
BACKGROUND: Inherited epidermolysis bullosa (EB) is a group of painful and life-threatening genetic disorders that are characterized by mechanically induced blistering of the skin and mucous membranes. Congenital skin fragility resembling EB was recently reported in three Charolais calves born in two distinct herds from unaffected parents. Phenotypic and genetic analyses were carried out to describe this...
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