Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach
about
Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.A contracted DNA repeat in LHX3 intron 5 is associated with aberrant splicing and pituitary dwarfism in German shepherd dogsPKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.Mutation analysis of the entire PKD1 gene: genetic and diagnostic implicationsHigh Resolution Melt analysis for mutation screening in PKD1 and PKD2.Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.An ELISA-based high throughput protein truncation test for inherited breast cancer.Mutation detection in the repeated part of the PKD1 gene.Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue.Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease.Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.ATM heterozygosity and breast cancer: screening of 37 breast cancer patients for ATM mutations using a non-isotopic RNase cleavage-based assay.Polycystin-1 but not polycystin-2 deficiency causes upregulation of the mTOR pathway and can be synergistically targeted with rapamycin and metformin.Detection of novel NF2 mutations by an RNA mismatch cleavage method."Mistakes happen": somatic mutation and disease.Detection of mutations by RNase cleavage.Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.
P2860
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P2860
Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Identification of mutations in ...... ene (PKD1) by a novel approach
@ast
Identification of mutations in ...... ene (PKD1) by a novel approach
@en
type
label
Identification of mutations in ...... ene (PKD1) by a novel approach
@ast
Identification of mutations in ...... ene (PKD1) by a novel approach
@en
prefLabel
Identification of mutations in ...... ene (PKD1) by a novel approach
@ast
Identification of mutations in ...... ene (PKD1) by a novel approach
@en
P2093
P2860
P356
P1476
Identification of mutations in ...... ene (PKD1) by a novel approach
@en
P2093
C G Winearls
J Sloane-Stanley
P C Harris
P2860
P304
P356
10.1086/515467
P407
P50
P577
1997-06-01T00:00:00Z