کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1904813 1534666 2013 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses
چکیده انگلیسی


• Number of genes and mutations that cause NCL summarized
• Correlation between genotype and phenotype discussed
• Outlook on genotype and phenotype presented

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that mainly affect children and are grouped together by similar clinical features and the accumulation of autofluorescent storage material. More than a dozen genes containing nearly 400 mutations underlying human NCLs have been identified. Most of the mutations in these genes are associated with a typical disease phenotype, but some result in variable disease onset, severity and progression. There are still disease subgroups with unknown molecular genetic backgrounds. This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease - Volume 1832, Issue 11, November 2013, Pages 1827–1830
نویسندگان
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