Expression and molecular analysis of mutations in prolidase deficiency.

Eitemau Tebyg

• Four novel PEPD alleles causing prolidase deficiency.
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  Cyhoeddwyd: (1994)
• Prolidase deficiency: biochemical classification of alleles.
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  Cyhoeddwyd: (1989)
• Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.
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  Cyhoeddwyd: (1996)
• Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.
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  Cyhoeddwyd: (1992)
• 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
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  Cyhoeddwyd: (2006)