A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells.

Prolidase deficiency is an autosomal recessive disorder characterized by mental retardation and various skin lesions. Cultured skin fibroblasts were obtained from two independent patients with abnormal prolidase. Using the polymerase chain reaction, we amplified the entire coding region of human pro...

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Veröffentlicht in:	J Clin Invest
Hauptverfasser:	Tanoue, A, Endo, F, Kitano, A, Matsuda, I
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	American Society for Clinical Investigation 1990
Schlagworte:	Research Article
Online-Zugang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296729/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2365824/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114708
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