کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
10834089 | 1065856 | 2010 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Analysis of seven Indian phenylketonuria families has revealed four novel mutations in the phenylalanine hydroxylase gene; two affected consensus splice sequence and the 3â² UTR, respectively, while the other two were single base insertion and deletion mutations, respectively. A novel 3â² splice site mutation c.168-2A>G resulted in the activation of a cryptic 3â² splice site that generated a premature termination codon leading to very low levels of the mutant transcript, probably due to activation of the nonsense-mediated decay (NMD) pathway. This is probably the first report of PKU caused by the activation of NMD.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 100, Issue 1, May 2010, Pages 96-99
Journal: Molecular Genetics and Metabolism - Volume 100, Issue 1, May 2010, Pages 96-99
نویسندگان
Murali D. Bashyam, Ajay K. Chaudhary, E. Chandrakanth Reddy, A. Radha Rama Devi, G.R. Savithri, R. Ratheesh, Leena Bashyam, E. Mahesh, Dity Sen, Ratna Puri, Inder C. Verma, Sheela Nampoothiri, Sunitha Vaidyanathan, Mataguru D. Chandrashekar,