LETTER: A CASE OF CYSTIC FIBROSIS WITH A RARE MUTATION (3849+10 KBC>T) AND NORMAL SWEAT CHLORIDE LEVELS

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RESID OZDEMIR TAHA; KANIK ALI

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

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Journal: Iranian Journal of Pediatrics Year:2015 | Volume:25 | Issue:2 Page(s): 1-3

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Title

LETTER: A CASE OF CYSTIC FIBROSIS WITH A RARE MUTATION (3849+10 KBC>T) AND NORMAL SWEAT CHLORIDE LEVELS

Author(s)

RESID OZDEMIR TAHA | KANIK ALI | Issue Writer Certificate

Keywords

CYSTIC FIBROSIS

GENE

MUTATION

Abstract

Dear Editor, CYSTIC FIBROSIS is an autosomal recessive disorder, which is caused by MUTATIONs in CFTR GENE on chromosome 7q31.2. The prevalence of CF is approximately 1 in 2500 in Caucasians. In other populations, it has been seen less frequently. Characteristic features include chronic pulmonary disease, pancreatic exocrine insufficiency and secretory systems such as gastro-intestinal and reproductive system function abnormalities. Current guidelines for the diagnosis of CF suggest that a patient must present one or more characteristic phenotypic features or a positive newborn screening test result and a positive sweat test or two CF-causing MUTATIONs.

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APA: Copy

RESID OZDEMIR, TAHA, & KANIK, ALI. (2015). LETTER: A CASE OF CYSTIC FIBROSIS WITH A RARE MUTATION (3849+10 KBC>T) AND NORMAL SWEAT CHLORIDE LEVELS. IRANIAN JOURNAL OF PEDIATRICS, 25(2), 1-3. SID. https://sid.ir/paper/665154/en

Vancouver: Copy

RESID OZDEMIR TAHA, KANIK ALI. LETTER: A CASE OF CYSTIC FIBROSIS WITH A RARE MUTATION (3849+10 KBC>T) AND NORMAL SWEAT CHLORIDE LEVELS. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2015;25(2):1-3. Available from: https://sid.ir/paper/665154/en

IEEE: Copy

TAHA RESID OZDEMIR, and ALI KANIK, “LETTER: A CASE OF CYSTIC FIBROSIS WITH A RARE MUTATION (3849+10 KBC>T) AND NORMAL SWEAT CHLORIDE LEVELS,” IRANIAN JOURNAL OF PEDIATRICS, vol. 25, no. 2, pp. 1–3, 2015, [Online]. Available: https://sid.ir/paper/665154/en

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