کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3053916 | 1580030 | 2012 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation
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موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation](/preview/png/3053916.png)
چکیده انگلیسی
X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare cause of early onset ataxia, which may be overlooked due to the usually mild asymptomatic anemia. The genetic defect has been identified as a mutation in the ABCB7 gene at Xq12-q13. The gene encodes a mitochondrial ATP-binding cassette (ABC) transporter protein involved in iron homeostasis. Until now only three families have been reported, each with a distinct missense mutation in this gene. We describe a fourth family with XLSA-A and a novel mutation in the ABCB7 gene.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Paediatric Neurology - Volume 16, Issue 6, November 2012, Pages 730–735
Journal: European Journal of Paediatric Neurology - Volume 16, Issue 6, November 2012, Pages 730–735
نویسندگان
Marc D’Hooghe, Dominik Selleslag, Geert Mortier, Rudy Van Coster, Pieter Vermeersch, Johan Billiet, Soumeya Bekri,