Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans- heterozygous mutations

Terry Watnick; Ning He; Kairong Wang; Yan Liang; Patrick Parfrey; Donna Hefferton; Peter St. George-Hyslop; Gregory Germino; York Pei

doi:10.1038/75981

Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans- heterozygous mutations

Terry Watnick, Ning He, Kairong Wang, Yan Liang, Patrick Parfrey, Donna Hefferton, Peter St. George-Hyslop, Gregory Germino, York Pei

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

98 Scopus citations

Original language	English (US)
Pages (from-to)	143-144
Number of pages	2
Journal	Nature genetics
Volume	25
Issue number	2
DOIs	https://doi.org/10.1038/75981
State	Published - Jun 2000
Externally published	Yes

ASJC Scopus subject areas

Genetics

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@article{5a83519694d5423aa09a80836fc35535,

title = "Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans- heterozygous mutations",

author = "Terry Watnick and Ning He and Kairong Wang and Yan Liang and Patrick Parfrey and Donna Hefferton and {St. George-Hyslop}, Peter and Gregory Germino and York Pei",

note = "Funding Information: We thank the individuals with ADPKD and their families for participation. This work was supported by the NIH (DK48006, DK02562), the Polycystic Kidney Disease Research Foundation and the Kidney Foundation of Canada. G.G.G. is the Irving Blum Scholar of the Johns Hopkins",

year = "2000",

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doi = "10.1038/75981",

language = "English (US)",

volume = "25",

pages = "143--144",

journal = "Nature genetics",

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T1 - Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans- heterozygous mutations

AU - Watnick, Terry

AU - He, Ning

AU - Wang, Kairong

AU - Liang, Yan

AU - Parfrey, Patrick

AU - Hefferton, Donna

AU - St. George-Hyslop, Peter

AU - Germino, Gregory

AU - Pei, York

N1 - Funding Information: We thank the individuals with ADPKD and their families for participation. This work was supported by the NIH (DK48006, DK02562), the Polycystic Kidney Disease Research Foundation and the Kidney Foundation of Canada. G.G.G. is the Irving Blum Scholar of the Johns Hopkins

PY - 2000/6

Y1 - 2000/6

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U2 - 10.1038/75981

DO - 10.1038/75981

M3 - Article

C2 - 10835625

AN - SCOPUS:0034120144

SN - 1061-4036

VL - 25

SP - 143

EP - 144

JO - Nature genetics

JF - Nature genetics

IS - 2

ER -

Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans- heterozygous mutations

ASJC Scopus subject areas

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