Whole-genome sequencing identifies a homozygous deletion encompassing exons 17 to 23 of the integrin...
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
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Publisher
France: BioMed Central Ltd
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Language
English
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Publisher
France: BioMed Central Ltd
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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).
Fifty-four extended regions of homozygosity (>1 Mb) were ide...
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Full title
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
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4417276
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4417276
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ISSN
1297-9686,0999-193X
E-ISSN
1297-9686
DOI
10.1186/s12711-015-0110-z
