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.

Academic Article

Publication Date:

2006

Iris type:

1.1 Articolo in rivista

Keywords:

Prolidase Deficiency; mutation; molecular characterization; genotype-phenotype correlation

List of contributors:

Authors of the University:

CAMPARI ELENA

FORLINO ANTONELLA

ROSSI ANTONIO

Handle:

Published in:

Journal