Nephrotic syndrome in childhood: genotype-phenotype association studies and screening for novel mutations
نویسندگان
چکیده
..............................................................................................................................xiv Introduction ............................................................................................................................1 What is Nephrotic Syndrome? .............................................................................................1 Pathophysiology .................................................................................................................1 Genetics ..............................................................................................................................3 Nephrin ...........................................................................................................................4 Podocin ...........................................................................................................................5 Phospholipase Cε1 ..........................................................................................................6 Wilms’ tumor 1 ...............................................................................................................6 Nonsyndromic steroid-resistant nephrotic syndrome ...........................................................8 Congenital nephrotic syndrome .......................................................................................8 Infantile and childhood nephrotic syndrome ....................................................................8 Objectives ............................................................................................................................ 10 Patients, Material and Methods ............................................................................................. 11 Patients ............................................................................................................................. 11 DNA Extraction ................................................................................................................ 12 DNA Quantification .......................................................................................................... 12 Mutation screening ........................................................................................................... 13 PCR conditions ................................................................................................................. 13
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