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Article

Partial deletion of the <i>LAMA3</i> gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred Horse

11 Nov 2008

Abstract excerpt

Laminin 5 is a heterotrimeric basement membrane protein integral to the structure and function of the dermal-epidermal junction. It consists of three glycoprotein subunits: the alpha3, beta3 and gamma2 chains, which are encoded by the LAMA3, LAMB3 and LAMC2 genes respectively. A mutation in any of these genes results in the condition known as hereditary junctional epidermolysis bullosa (JEB). A 6589-bp deletion...

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PMID: 19016681
DOI: 10.1111/j.1365-2052.2008.01795.x

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