Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X)in patients with Fanconi anemia in Pakistan
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چکیده
منابع مشابه
Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X)in patients with Fanconi anemia in Pakistan.
BACKGROUND/AIM Fanconi anemia (FA) is an autosomal recessive disease determined by mutations in at least 16 genes, with distinct distributions in different populations. To the best of our knowledge, there are no reports regarding the molecular basis of the disease in FA patients in Pakistan. The current study aimed to determine the frequency of FANCC gene mutations, i.e. IVS4+4A>T, del322G, and...
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ژورنال
عنوان ژورنال: TURKISH JOURNAL OF MEDICAL SCIENCES
سال: 2017
ISSN: 1300-0144,1303-6165
DOI: 10.3906/sag-1506-53