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Novel human pathological mutations. Gene symbol: NPHS2. Disease: steroid-resistant nephrotic syndrome

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Published in:Human genetics 2007-12, Vol.122 (5), p.549-549
Main Authors: Tikhomirov, Eugeny, Averyanova, Natalia, Bayazutdinova, Gulnara, Voznesenskaya, Tatiana, Tsygin, Alexey
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container_end_page 549
container_issue 5
container_start_page 549
container_title Human genetics
container_volume 122
creator Tikhomirov, Eugeny
Averyanova, Natalia
Bayazutdinova, Gulnara
Voznesenskaya, Tatiana
Tsygin, Alexey
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subjects Amino Acid Substitution
Codon - genetics
Humans
Intracellular Signaling Peptides and Proteins - genetics
Membrane Proteins - genetics
Mutation, Missense
Nephrotic Syndrome - drug therapy
Nephrotic Syndrome - genetics
Steroids - pharmacology
title Novel human pathological mutations. Gene symbol: NPHS2. Disease: steroid-resistant nephrotic syndrome
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