mRNA sequencing of a novel NPHS2 intronic mutation in a child with focal and segmental glomerulosclerosis
نویسندگان
چکیده
منابع مشابه
NPHS2 variation in focal and segmental glomerulosclerosis
BACKGROUND Focal and segmental glomerulosclerosis (FSGS) is the most common histologic pattern of renal injury seen in adults with idiopathic proteinuria. Homozygous or compound heterozygous mutations in the podocin gene NPHS2 are found in 10-30% of pediatric cases of steroid resistant nephrosis and/or FSGS. METHODS We studied the spectrum of genetic variation in 371 individuals with predomin...
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ژورنال
عنوان ژورنال: Saudi Journal of Kidney Diseases and Transplantation
سال: 2014
ISSN: 1319-2442
DOI: 10.4103/1319-2442.135180