کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1999757 | 1065870 | 2006 | 9 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
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چکیده انگلیسی
The exonic regions of the carnitine palmitoyltransferase 2 (CPT2) gene were characterized from 101 patients with defined clinical and biochemical evidence for the adult onset form of CPT II deficiency and in 2 patients detected as newborns with abnormal acylcarnitine profiles. Twenty-seven disease-causing mutations within the CPT2 gene were identified in this cohort, 16 of which were novel. A total of 60 disease-causing mutations have been identified to date in CPT2 and 41 of these are predicted to produce amino acid substitution/deletions. The implications of these mutations are described in light of recent advances in our understanding of the molecular structure of members of the carnitine acyltransferase family.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 89, Issue 4, December 2006, Pages 323–331
Journal: Molecular Genetics and Metabolism - Volume 89, Issue 4, December 2006, Pages 323–331
نویسندگان
Paul J. Isackson, Michael J. Bennett, Georgirene D. Vladutiu,