Whole-genome sequencing identifies a homozygous deletion encompassing exons 17 to 23 of the integrin beta 4 gene in a Charolais calf with junctional epidermolysis bullosa

BACKGROUND: Since 2010, four Charolais calves with a congenital mechanobullous skin disorder that were born in the same herd from consanguineous matings were reported to us. Clinical and histopathological examination revealed lesions that are compatible with junctional epidermolysis bullosa (JEB). R...

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Detalles Bibliográficos
Autores principales: Michot, Pauline, Fantini, Oscar, Braque, Régis, Allais-Bonnet, Aurélie, Saintilan, Romain, Grohs, Cécile, Barbieri, Johanna, Genestout, Lucie, Danchin-Burge, Coralie, Gourreau, Jean-Marie, Boichard, Didier, Pin, Didier, Capitan, Aurélien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4417276/
https://www.ncbi.nlm.nih.gov/pubmed/25935160
http://dx.doi.org/10.1186/s12711-015-0110-z

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