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...
Zapisane w:
| Wydane w: | J Clin Invest |
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| Główni autorzy: | , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
American Society for Clinical Investigation
1991
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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