Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

A. M. Sharp; L. M. Messiaen; G. Page; C. Antignac; M. C. Gubler; L. F. Onuchic; S. Somlo; G. G. Germino; Lisa M. Guay-Woodford

doi:10.1136/jmg.2004.024489

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

A. M. Sharp, L. M. Messiaen, G. Page, C. Antignac, M. C. Gubler, L. F. Onuchic, S. Somlo, G. G. Germino, Lisa M. Guay-Woodford

School of Medicine

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

Original language	English (US)
Pages (from-to)	336-349
Number of pages	14
Journal	Journal of Medical Genetics
Volume	42
Issue number	4
DOIs	https://doi.org/10.1136/jmg.2004.024489
State	Published - Apr 2005

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1136/jmg.2004.024489

Cite this

@article{bc3ada1bdf594d07aeba2717eff6087b,

title = "Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts",

author = "Sharp, {A. M.} and Messiaen, {L. M.} and G. Page and C. Antignac and Gubler, {M. C.} and Onuchic, {L. F.} and S. Somlo and Germino, {G. G.} and Guay-Woodford, {Lisa M.}",

year = "2005",

month = apr,

doi = "10.1136/jmg.2004.024489",

language = "English (US)",

volume = "42",

pages = "336--349",

journal = "Journal of Medical Genetics",

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AU - Sharp, A. M.

AU - Messiaen, L. M.

AU - Page, G.

AU - Antignac, C.

AU - Gubler, M. C.

AU - Onuchic, L. F.

AU - Somlo, S.

AU - Germino, G. G.

AU - Guay-Woodford, Lisa M.

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M3 - Article

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JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

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Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

ASJC Scopus subject areas

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