کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
10742420 | 1047342 | 2005 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Novel compound heterozygous mutations in sacsin-related ataxia
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Novel compound heterozygous mutations in sacsin-related ataxia Novel compound heterozygous mutations in sacsin-related ataxia](/preview/png/10742420.png)
چکیده انگلیسی
High prevalence of a form of autosomal recessive spastic ataxia with early onset was originally described among French Canadians in the Charlevoix-Saguenay region, in northeastern Quebec. Since the responsible gene (SACS) was identified, mutations in the SACS gene have been described in Tunisia, Italy, Turkey, and Japan. The mutation sites found outside Quebec are different from the ones in Quebec. All patients outside Quebec, except one Italian patient, have been reported to have homozygous mutations. The authors report here identical twin sisters with novel compound heterozygous mutations (c.[2951_2952delAG]+[3922delT]) in the SACS gene.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 239, Issue 1, 15 December 2005, Pages 101-104
Journal: Journal of the Neurological Sciences - Volume 239, Issue 1, 15 December 2005, Pages 101-104
نویسندگان
Yoichi Yamamoto, Kotaro Hiraoka, Mutsuko Araki, Seiichi Nagano, Haruo Shimazaki, Yoshihisa Takiyama, Sabro Sakoda,