کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2000303 | 1541571 | 2006 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient
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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
![عکس صفحه اول مقاله: Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient](/preview/png/2000303.png)
چکیده انگلیسی
A metachromatic leukodystrophy (MLD) patient was found to carry two additional arylsulfatase A (ARSA) alleles besides the two inherited. The additional alleles arose from an event of mitotic intragenic recombination between the inherited alleles, thus leading to a case of somatic mosaicism. As suggested by in vitro expression, the recombination was ineffective in generating a significantly advantaged ARSA allele compared to the inherited alleles. Although the phenotype in this patient was not modified by the recombination, similar events could potentially yield significant clinical benefits.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 89, Issues 1–2, September–October 2006, Pages 150–155
Journal: Molecular Genetics and Metabolism - Volume 89, Issues 1–2, September–October 2006, Pages 150–155
نویسندگان
Stefano Regis, Susanna Lualdi, Alessandra Biffi, Maria Sessa, Fabio Corsolini, Giancarlo Parenti, Mirella Filocamo,