A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper‐IgE syndrome
Identifieur interne : 007D51 ( Main/Exploration ); précédent : 007D50; suivant : 007D52A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper‐IgE syndrome
Auteurs : T. Hershkovitz [Israël] ; G. Hassoun ; M. Indelman ; L. I. Shlush [Israël] ; R. Bergman [Israël] ; S. Pollack [Israël] ; E. Sprecher [Israël]Source :
- Clinical and Experimental Dermatology [ 0307-6938 ] ; 2006-05.
Abstract
Background. Prolidase deficiency is a complex disease characterized by various skin manifestations accompanied by mental retardation, facial dysmorphism and susceptibility to pyogenic infections.
Url:
DOI: 10.1111/j.1365-2230.2006.02112.x
Affiliations:
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<front><div type="abstract">Background. Prolidase deficiency is a complex disease characterized by various skin manifestations accompanied by mental retardation, facial dysmorphism and susceptibility to pyogenic infections.</div>
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