Article
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family.
Journal of medical genetics - 1 Dec 2006
Lupi A, Rossi A, Campari E, Pecora F, Lund A M, Elcioglu N H, Gultepe M, Di Rocco M, Cetta G, Forlino A
Abstract excerpt
Prolidase deficiency (PD) is a rare autosomal recessive connective tissue disorder caused by mutations in the prolidase gene. The PD patients show a wide range of clinical outcomes characterised mainly by intractable skin ulcers, mental retardation and recurrent respiratory infections. Here we describe five different PEPD mutations in six European patients. We identified two new PEPD mutant alleles: a 13 bp...
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