Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms. A 0.8-kb deletion with breakpoints at the short, direct repeat in the PEPD gene and synthesis of abnormal messenger RNA and inactive polypeptide.

Prolidase deficiency is an autosomal recessive disorder with highly variable symptoms, including mental retardation, skin lesions, and abnormalities of collagenous tissues. In Japanese female siblings with polypeptide negative prolidase deficiency, and with different degrees of severity of skin lesi...

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書誌詳細
出版年:	J Clin Invest
主要な著者:	Tanoue, A, Endo, F, Akaboshi, I, Oono, T, Arata, J, Matsuda, I
フォーマット:	Artigo
言語:	Inglês
出版事項:	American Society for Clinical Investigation 1991
主題:	Research Article
オンライン･アクセス:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295128/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2010534/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115115
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Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms. A 0.8-kb deletion with breakpoints at the short, direct repeat in the PEPD gene and synthesis of abnormal messenger RNA and inactive polypeptide.

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