Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure.

Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure.

Item
http://www.wikidata.org/entity/Q33370147
Pathophysiology of thrombotic thrombocytopenic purpuraProteolytic processing of von Willebrand factor by adamts13 and leukocyte proteasesNovel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura.ADAMTS13 and microvascular thrombosisThrombotic thrombocytopenic purpura: a thrombotic disorder caused by ADAMTS13 deficiencyThe kidney in thrombotic thrombocytopenic purpura.The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura.A 9-month-old infant with acquired idiopathic thrombotic thrombocytopenic purpura caused by inhibitory IgG-autoantibody to ADAMTS13.ADAMTS13 gene mutations in children with hemolytic uremic syndrome.Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan.Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura.SNPs in ADAMTS13.A first bout of thrombotic thrombocytopenic purpura triggered by herpes simplex infection in a 45-year-old nulliparous female with Upshaw-Schulman syndrome
P2860

Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure.

Item
http://www.wikidata.org/entity/Q33370147
description
2006 nî lūn-bûn
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2006 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Novel compound heterozygote mu ...... repeated acute renal failure.
@ast
Novel compound heterozygote mu ...... repeated acute renal failure.
@en
type
label
Novel compound heterozygote mu ...... repeated acute renal failure.
@ast
Novel compound heterozygote mu ...... repeated acute renal failure.
@en
prefLabel
Novel compound heterozygote mu ...... repeated acute renal failure.
@ast
Novel compound heterozygote mu ...... repeated acute renal failure.
@en
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P921
P356
P1433
P1476
Novel compound heterozygote mu ...... repeated acute renal failure.
@en
P2093
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P921