Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families

Roser Torra; Celia Badenas; Belen Peral; Alejandro Darnell; Eduard Serra; Vicki Gamble; Alberto E. Turco; Peter C. Harris; Xavier Estivill

doi:10.1002/humu.1380110139

Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families

Roser Torra, Celia Badenas, Belen Peral, Alejandro Darnell, Eduard Serra, Vicki Gamble, Alberto E. Turco, Peter C. Harris, Xavier Estivill

Nephrology and Hypertension

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

Original language	English (US)
Pages (from-to)	S117-S120
Journal	Human mutation
Volume	11
Issue number	SUPPL 1
DOIs	https://doi.org/10.1002/humu.1380110139
State	Published - 1998

Keywords

ADPKD
Mutation
PKDI
Recurrence

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/humu.1380110139

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title = "Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families",

keywords = "ADPKD, Mutation, PKDI, Recurrence",

author = "Roser Torra and Celia Badenas and Belen Peral and Alejandro Darnell and Eduard Serra and Vicki Gamble and Turco, {Alberto E.} and Harris, {Peter C.} and Xavier Estivill",

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doi = "10.1002/humu.1380110139",

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volume = "11",

pages = "S117--S120",

journal = "Human mutation",

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TY - JOUR

T1 - Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families

AU - Torra, Roser

AU - Badenas, Celia

AU - Peral, Belen

AU - Darnell, Alejandro

AU - Serra, Eduard

AU - Gamble, Vicki

AU - Turco, Alberto E.

AU - Harris, Peter C.

AU - Estivill, Xavier

PY - 1998

Y1 - 1998

KW - ADPKD

KW - Mutation

KW - PKDI

KW - Recurrence

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U2 - 10.1002/humu.1380110139

DO - 10.1002/humu.1380110139

M3 - Article

C2 - 9452060

AN - SCOPUS:0031964981

SN - 1059-7794

VL - 11

SP - S117-S120

JO - Human mutation

JF - Human mutation

IS - SUPPL 1

ER -

Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families

Keywords

ASJC Scopus subject areas

Access to Document

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