MUTATIONS IN PATIENTS WITH WILSON DISEASE IN IRAN

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MALEKI I.; EDALATKHAH H.; ZALI MOHAMMAD REZA; GENSHEL I.; GOLSORKHI H.; MIRFATAHI M.; MOHAGHEGH SHALRNANI H.; SCHMIDT H.; NAJMABADI H.

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Journal: JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS) Year:2003 | Volume:7 | Issue:4 Page(s): 336-339

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Title

MUTATIONS IN PATIENTS WITH WILSON DISEASE IN IRAN

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Keywords

WILSONQ4

MUTATIONQ4

IRANQ2

Abstract

Introduction: WILSON disease (WD),which is characterized by chronic hepatic inflammation and central nervous system (CNS) disorder, is caused by various MUTATIONs on ATP7B .This genetic disorder induces abnormal copper metabolism and its deposition in multiple organs. Considering the increasing role of molecular biology in the diagnosis of WD, mapping the whole MUTATIONs of ATP7B is mandatory. Methods: In search for the MUTATION pattern of ATP7B in IRAN for the first time, 30 patients were selected depending on known clinical and para-clinical criteria. Their DNA was extracted and sent for the laboratory study. Results: The patients with a mean age of 16 years old were suffering from hepatic (90%) and CNS (50%) symptoms. The MUTATION profile in IRANian people was completely different from European population and some new MUTATIONs were reported (e.g. (1232)3696 Del; 51392). Discussion: With respect to the wide geographic variation in MUTATIONs of ATP7B, using genetic probes for diagnosis and screening of WD is not convenient. Before the availability of commercial diagnostic tools for this purpose, knowledge of the whole MUTATION map of ATP7B and its phenotypic correlation is indispensable. During this study we found and reported new MUTATIONs of ATP7B.

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APA: Copy

MALEKI, I., EDALATKHAH, H., ZALI, MOHAMMAD REZA, GENSHEL, I., GOLSORKHI, H., MIRFATAHI, M., MOHAGHEGH SHALRNANI, H., SCHMIDT, H., & NAJMABADI, H.. (2003). MUTATIONS IN PATIENTS WITH WILSON DISEASE IN IRAN. JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS), 7(4), 336-339. SID. https://sid.ir/paper/26669/en

Vancouver: Copy

MALEKI I., EDALATKHAH H., ZALI MOHAMMAD REZA, GENSHEL I., GOLSORKHI H., MIRFATAHI M., MOHAGHEGH SHALRNANI H., SCHMIDT H., NAJMABADI H.. MUTATIONS IN PATIENTS WITH WILSON DISEASE IN IRAN. JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS)[Internet]. 2003;7(4):336-339. Available from: https://sid.ir/paper/26669/en

IEEE: Copy

I. MALEKI, H. EDALATKHAH, MOHAMMAD REZA ZALI, I. GENSHEL, H. GOLSORKHI, M. MIRFATAHI, H. MOHAGHEGH SHALRNANI, H. SCHMIDT, and H. NAJMABADI, “MUTATIONS IN PATIENTS WITH WILSON DISEASE IN IRAN,” JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS), vol. 7, no. 4, pp. 336–339, 2003, [Online]. Available: https://sid.ir/paper/26669/en

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