(Q44153817)

30 November 2017

title

Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients (English)

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autosomal dominant polycystic kidney disease

30 November 2017

main subject

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autosomal dominant polycystic kidney

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Sumiko Inoue

1

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30 November 2017

Kayoko Inoue

2

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30 November 2017

Maki Utsunomiya

3

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30 November 2017

Jun-Ichi Nozaki

4

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30 November 2017

Yuichiro Yamada

5

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30 November 2017

Toshio Iwasa

6

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30 November 2017

Eitaro Mori

7

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30 November 2017

Takeo Yoshinaga

8

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30 November 2017

Akio Koizumi

9

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30 November 2017

publication date

1 June 2002

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30 November 2017

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30 November 2017

volume

19

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30 November 2017

issue

6

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30 November 2017

page(s)

622-628

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Mutations of the human polycystic kidney disease 2 (PKD2) gene

30 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10080

Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10080

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10080

Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10080

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10080

Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10080

Gene conversion is a likely cause of mutation in PKD1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10080

Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10080

Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10080

Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and ade novo mutation in Hellenic polycystic kidney disease families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10080

Thirteen novel mutations of the replicated region of PKD1 in an Asian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10080

An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10080

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10080

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.10080

1 reference

30 November 2017

1 reference