کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3851071 1598357 2008 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Novel COL4A3 Mutations in African American Siblings With Autosomal Recessive Alport Syndrome
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی بیماری‌های کلیوی
پیش نمایش صفحه اول مقاله
Novel COL4A3 Mutations in African American Siblings With Autosomal Recessive Alport Syndrome
چکیده انگلیسی
We describe a novel mutational study in 2 African American siblings with autosomal recessive Alport syndrome. Both siblings were compound heterozygotes for 2 abnormal DNA sequences in exon 49 of the COL4A3 gene, p.Arg1496X (CGA→TGA) and p.Arg1516X (CGA→TGA). These are nonsense mutations in the noncollagenous domain resulting in premature termination codons and have not been previously reported. In an African American population in which autosomal recessive Alport syndrome is rarely seen, complete sequencing of the COL4A3 and COL4A4 genes may be necessary to identify the underlying mutation and confirm the diagnosis.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: American Journal of Kidney Diseases - Volume 51, Issue 5, May 2008, Pages e25-e28
نویسندگان
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