POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.
|
26139440 |
2016 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in the duplicated region of PKD1 gene.
|
10854095 |
2000 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Family screening for polycystic kidney disease was negative and mutations in polycystic kidney disease 1 and 2 genes (PKD1 and PKD2) were absent.
|
23165645 |
2012 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
|
22508176 |
2012 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.
|
9259200 |
1997 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A complete mutation screen of the ADPKD genes by DHPLC.
|
11967008 |
2002 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.
|
12482949 |
2002 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease.
|
11773467 |
2002 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
|
12007219 |
2002 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.
|
15772804 |
2005 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Thirteen novel mutations of the replicated region of PKD1 in an Asian population.
|
11012875 |
2000 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.
|
11857740 |
2002 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation screening of the PKD1 transcript by RT-PCR.
|
12070253 |
2002 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes.
|
11058904 |
2000 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.
|
11216660 |
2000 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.
|
11115377 |
2001 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of the PKD1 gene due to a nucleotide substitution in splice-acceptor site of IVS13 (AG->TG) was identified by analyses of PKD1-cDNA and genomic DNA.
|
10612835 |
2000 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.
|
8554072 |
1996 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.
|
11571556 |
2001 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients.
|
10987650 |
1999 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples.
|
11316854 |
2001 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family.
|
11558899 |
2001 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.
|
10923040 |
2000 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.
|
10647901 |
1999 |
POLYCYSTIC KIDNEY DISEASE 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.
|
12842373 |
2003 |