کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8644316 | 1569449 | 2018 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability](/preview/png/8644316.png)
چکیده انگلیسی
A four base pair duplication in exon 15 i.e.NM_032861.3 (SERAC1) c. 1643_1646 dup ATCT (p.(Leu550SerfsX19)) and another with a homozygous missense variation in exon 15 i.e. NM_032861.3 (SERAC1) c.1709 GÂ >Â A (p.(Gly526Glu)) were detected and both were novel mutations. Hepatopathy was observed in the neonatal period with lactic acidosis in one child and at the age of 5yrs in the other. These cases add to the existing number of patients identified till today and additional mutations in the SERAC1 gene.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 61, Issue 2, February 2018, Pages 100-103
Journal: European Journal of Medical Genetics - Volume 61, Issue 2, February 2018, Pages 100-103
نویسندگان
A. Radha Rama Devi, Lokesh Lingappa,