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Article

Mutations in the PSTPIP1 gene and aberrant splicing variants in patients with pyoderma gangrenosum

26 Jul 2011

Abstract excerpt

BACKGROUND: Pyoderma gangrenosum (PG) is a rare, noninfectious form of skin ulceration, typically accompanied by neutrophilic infiltration. Several familial cases have been reported, suggesting the involvement of genetic factors in the aetiology of PG. Two mutations (A230T and E250Q) in the PSTPIP1 gene, encoding proline-serine-threonine phosphatase-interacting protein (PSTPIP)1 have been identified in patients...

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PMID: 21790734
DOI: 10.1111/j.1365-2230.2011.04137.x

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