×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
22508176 2012
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).
21115670 2011
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
18837007 2009
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.
15772804 2005
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.
12842373 2003
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
A complete mutation screen of the ADPKD genes by DHPLC.
11967008 2002
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
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
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease.
11773467 2002
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
12007219 2002
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1 ) gene in PKD1 -linked Australian families.
11857740 2002
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Mutation screening of the PKD1 transcript by RT-PCR.
12070253 2002
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.
12220456 2002
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.
11115377 2001
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.
11571556 2001
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples.
11316854 2001
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
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
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Mutational analysis within the 3' region of the PKD1 gene in Japanese families.
11691639 2001
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Novel mutations in the duplicated region of PKD1 gene.
10854095 2000
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Thirteen novel mutations of the replicated region of PKD1 in an Asian population.
11012875 2000
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes.
11058904 2000
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.
11216660 2000
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
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
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.
10729710 2000
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients.
10987650 1999
×
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
1.000
GeneticVariation
UNIPROT
Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.
10647901 1999