(Q54314428)

27 May 2018

title

Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. (English)

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27 May 2018

autosomal dominant polycystic kidney disease

main subject

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autosomal dominant polycystic kidney

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inferred from title

author name string

Marie-Pierre Audrézet

1

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27 May 2018

Emilie Cornec-Le Gall

2

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27 May 2018

Jian-Min Chen

3

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27 May 2018

Sylvia Redon

4

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27 May 2018

Isabelle Quéré

5

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27 May 2018

Joelle Creff

6

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27 May 2018

Caroline Bénech

7

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27 May 2018

Sandrine Maestri

8

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27 May 2018

Yann Le Meur

9

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27 May 2018

Claude Férec

10

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27 May 2018

publication date

24 May 2012

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27 May 2018

published in

Human Mutation

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27 May 2018

volume

33

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27 May 2018

issue

8

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27 May 2018

page(s)

1239-1250

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27 May 2018

Mutational analysis within the 3′ region of the PKD1 gene

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1 reference

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Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

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21 January 2018

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21 January 2018

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21 January 2018

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7 January 2021

Large deletions in the polycystic kidney disease 1 (PKD1) gene

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7 January 2021

PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Detection of two different nonsense mutations in exon 44 of the PKD1 gene in two unrelated Italian families with severe autosomal dominant polycystic kidney disease

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7 January 2021

Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22103

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22103

7 January 2021

Mutation analysis of autosomal dominant polycystic kidney disease genes in Han Chinese

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22103

7 January 2021

Identifiers

DOI

10.1002/HUMU.22103

1 reference

27 May 2018

1 reference

27 May 2018