Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach (original) (raw)
Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families
Arseni Markoff
Human Mutation, 2002
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Novel mutations in the 3' region of the polycystic kidney disease 1 (PKD1) gene
ALI AFZAL
Human Genetics, 1999
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Novel Mutations in the Duplicated Region of the Polycystic Kidney Disease 1 (PKD1) Gene Provides Supporting Evidence for Gene Conversion
CH Ali Afzal
Genetic Testing, 2000
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A Spectrum of Mutations in the Second Gene for Autosomal Dominant Polycystic Kidney Disease (PKD2)
Søren Nørby
The American Journal of Human Genetics, 1997
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Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families
Alkis Pierides
European Journal of Human Genetics, 2001
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Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease
Uk Kim
Clinical Genetics, 2002
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New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease
Jana Reiterova
BMC Medical Genetics, 2009
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Novel method for genomic analysis ofPKD1andPKD2mutations in autosomal dominant polycystic kidney disease
Raluca Anghel
Human Mutation, 2009
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Identification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease
Danai Palaiologou
International Journal of Pediatrics, 2019
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A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1
Peter Harris
Human Molecular Genetics, 1996
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ComprehensivePKD1andPKD2Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease
Ines OUERTANI
Journal of The American Society of Nephrology, 2015
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Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease
Alejandro Darnell
Kidney International, 1999
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Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease
Jana Reiterova
BMC Medical Genetics, 2014
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Screening the 3′ Region of the Polycystic Kidney Disease 1 (PKD1) Gene in 41 Bulgarian and Australian Kindreds Reveals a Prevalence of Protein Truncating Mutations
Arseni Markoff
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Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease
Uk Kim
Mutation Research/Mutation Research Genomics, 2000
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Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease
Ariane Zaloszyc
Journal of the American Society of Nephrology : JASN, 2015
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Mutations of the PKD2 Gene in Taiwanese Patients with Autosomal Dominant Polycystic Kidney Disease
Yah-huei Wu-chou
Renal Failure, 2005
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Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)
Luiz Onuchic
Journal of the American Society of Nephrology, 2003
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Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease
Chang-Chyi Jenq
Journal of Human Genetics, 2013
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Long RT-PCR Amplification of the Entire Coding Sequence of the Polycystic Kidney Disease 1 (PKD1) Gene
Wanna Thongnoppakhun
BioTechniques, 1999
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PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease
Katja Vouk
BMC Medical Genetics, 2006
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Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease
Julia Hoefele
Journal of the American Society of Nephrology, 2011
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Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes
Pablo Azurmendi
International Urology and Nephrology, 2012
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The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
I. Cordeiro
Cell, 1994
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