Software and database for the analysis of mutations in the human WT1 gene
about
A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndromePar4 is a coactivator for a splice isoform-specific transcriptional activation domain in WT1Frasier and Denys-Drash syndromes: different disorders or part of a spectrum?Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation databaseThe UMD-p53 database: new mutations and analysis tools.WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis.Genetics of pediatric renal tumors.Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis.Changes in WT1 splicing are associated with a specific gene expression profile in Wilms' tumour.The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
P2860
Q28237273-D66055DC-3F63-4090-997C-892411E105E0Q28346512-DF25241B-8899-4200-9318-CDEF85CEB0C1Q33734434-8C1C49FA-3403-4F9A-9B49-E7147464B81FQ33890336-58ACD790-B690-43C6-9C46-E2BA07C9BC19Q34385164-B89FB25B-A148-4940-961C-B71EB726670EQ35078713-70152150-A093-4A99-BB46-ED1BE4367867Q35754616-2B940CEC-89A2-46C7-A6D7-013729AB3371Q37998422-A6FE6608-50C7-42F7-8A29-855F741CFDEBQ38114930-6A38F1AA-41CF-47E2-860F-11329F97F987Q40784989-3159E72E-4A86-496F-9171-CC5B3A3B23C6Q42645870-D48F93B8-075F-4904-A782-6DEAF9474D9DQ44092524-3847AD0E-AF62-4102-9738-8BBFA59E74B0Q48073221-27A9A195-AE8F-4B84-91D2-D666BFC6ECA6
P2860
Software and database for the analysis of mutations in the human WT1 gene
description
1998 nî lūn-bûn
@nan
1998 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Software and database for the analysis of mutations in the human WT1 gene
@ast
Software and database for the analysis of mutations in the human WT1 gene
@en
Software and database for the analysis of mutations in the human WT1 gene
@nl
type
label
Software and database for the analysis of mutations in the human WT1 gene
@ast
Software and database for the analysis of mutations in the human WT1 gene
@en
Software and database for the analysis of mutations in the human WT1 gene
@nl
prefLabel
Software and database for the analysis of mutations in the human WT1 gene
@ast
Software and database for the analysis of mutations in the human WT1 gene
@en
Software and database for the analysis of mutations in the human WT1 gene
@nl
P2860
P356
P1476
Software and database for the analysis of mutations in the human WT1 gene
@en
P2093
P2860
P304
P356
10.1093/NAR/26.1.271
P407
P577
1998-01-01T00:00:00Z