Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing
نویسندگان
چکیده
منابع مشابه
Improving mutation screening in familial hematuric nephropathies through next generation sequencing.
Alport syndrome is an inherited nephropathy associated with mutations in genes encoding type IV collagen chains present in the glomerular basement membrane. COL4A5 mutations are associated with the major X-linked form of the disease, and COL4A3 and COL4A4 mutations are associated with autosomal recessive and dominant forms (thought to be involved in 15% and 1%-5% of the families, respectively) ...
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ژورنال
عنوان ژورنال: Journal of the American Society of Nephrology
سال: 2014
ISSN: 1046-6673,1533-3450
DOI: 10.1681/asn.2013080912