Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome.
about
Denys-Drash syndrome associated WT1 glutamine 369 mutants have altered sequence-preferences and altered responses to epigenetic modificationsA high incidence of WT1 abnormality in bilateral Wilms tumours in Japan, and the penetrance rates in children with WT1 germline mutationDiscordant phenotypes in monozygotic twins with identical de novo WT1 mutationWhere genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Pregnancy Outcome in Patients with Common Variable Immunodeficiency.A familial WT1 mutation associated with incomplete Denys-Drash syndrome.Patients with different or identical genotypes of the WT1 gene present different phenotypes.
P2860
Q27728005-426CB068-27A5-4652-A3A5-8953909CB1B3Q35198305-572A84A5-31BF-4D1F-A219-026417374A85Q35452576-BB7CF8A9-5ECE-48A1-A56C-AD66A8B5F56AQ37187461-AB9966B0-9EDA-48A3-873E-8D355F16D7AFQ40635629-5301B688-7DC8-466B-9182-3B17268B390AQ44252486-C0F813C4-5D12-41C1-B60D-01B1458F6B91Q46024251-FFBFC3BC-36A2-4DF9-84E8-FE6E7DDBF2E0
P2860
Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年學術文章
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name
Discordant expression of a new ...... congenital nephrotic syndrome.
@en
Discordant expression of a new ...... congenital nephrotic syndrome.
@nl
type
label
Discordant expression of a new ...... congenital nephrotic syndrome.
@en
Discordant expression of a new ...... congenital nephrotic syndrome.
@nl
prefLabel
Discordant expression of a new ...... congenital nephrotic syndrome.
@en
Discordant expression of a new ...... congenital nephrotic syndrome.
@nl
P2093
P2860
P1476
Discordant expression of a new ...... congenital nephrotic syndrome.
@en
P2093
Dana Mixová
Filip Fencl
Jakub Zieg
Květa Bláhová
Tomáš Seeman
Veronika Stará
P2860
P2888
P304
P356
10.1007/S00431-011-1497-3
P577
2011-05-26T00:00:00Z