CYSTIC FIBROSIS ANDDISTRIBUTION AND MUTATION ANALYSIS OF CFTR GENE IN IRANIAN PATIENTS

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HAVASIAN MOHAMMAD REZA; PANAHI JAFAR; MAHDIEH NEJAT

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Journal: Koomesh Year:2014 | Volume:15 | Issue:4 (52) Page(s): 431-440

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Information Journal Paper

Title

CYSTIC FIBROSIS ANDDISTRIBUTION AND MUTATION ANALYSIS OF CFTR GENE IN IRANIAN PATIENTS

Author(s)

HAVASIAN MOHAMMAD REZA | PANAHI JAFAR | MAHDIEH NEJAT | Issue Writer Certificate

Keywords

CYSTIC FIBROSISQ2

CFTRQ3

IRANIAN POPULATIONQ2

Abstract

CYSTIC FIBROSIS is one of the most lethal multi-system disorders and is the most common autosomal recessive disease in Caucasians. The related protein is named CYSTIC FIBROSIS transmembrane conductive regulator (CFTR). Various mutations in CFTR gene have been reported to cause CFTR loss of function and diseased phenotype. The most prevalent mutation is DF508, deletion of phe at position 508. Here, we briefly explain clinical features and diagnostic methods of the disease firstly, and then the genetics of the disease and its mutations as well as genetic studies in IRANIAN POPULATIONs are reviewed. Up to now, totally 56 different mutations have been reported in Iranian patients which 8 of them reported for the first time. Seven common mutations in this population are as follows p.F508del (33.33%), c.1677delTA (7.41%), c.2183_2184delAAinsG (5.56%), p.N1303K (4.81%), c.2789+5G>A (4.44%), p.S466X (4.44%) and p.G542X (4.07%).

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APA: Copy

HAVASIAN, MOHAMMAD REZA, PANAHI, JAFAR, & MAHDIEH, NEJAT. (2014). CYSTIC FIBROSIS ANDDISTRIBUTION AND MUTATION ANALYSIS OF CFTR GENE IN IRANIAN PATIENTS. KOOMESH, 15(4 (52)), 431-440. SID. https://sid.ir/paper/37031/en

Vancouver: Copy

HAVASIAN MOHAMMAD REZA, PANAHI JAFAR, MAHDIEH NEJAT. CYSTIC FIBROSIS ANDDISTRIBUTION AND MUTATION ANALYSIS OF CFTR GENE IN IRANIAN PATIENTS. KOOMESH[Internet]. 2014;15(4 (52)):431-440. Available from: https://sid.ir/paper/37031/en

IEEE: Copy

MOHAMMAD REZA HAVASIAN, JAFAR PANAHI, and NEJAT MAHDIEH, “CYSTIC FIBROSIS ANDDISTRIBUTION AND MUTATION ANALYSIS OF CFTR GENE IN IRANIAN PATIENTS,” KOOMESH, vol. 15, no. 4 (52), pp. 431–440, 2014, [Online]. Available: https://sid.ir/paper/37031/en

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