Functional characterization of the human RPGR proximal promoter

Xinhua Shu; Julie R. Simpson; Alan W. Hart; Zhihong Zeng; Sarita Rani Patnaik; Philippe Gautier; Emma Murdoch; Brian Tulloch; Alan F. Wright

doi:10.1167/iovs.11-8811

Functional characterization of the human RPGR proximal promoter

Xinhua Shu, Julie R. Simpson, Alan W. Hart, Zhihong Zeng, Sarita Rani Patnaik, Philippe Gautier, Emma Murdoch, Brian Tulloch, Alan F. Wright

Biological and Biomedical Sciences

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

8 Citations (Scopus)

Abstract

Mutations in the retinitis pigmentosa (RP) GTPase regulator (RPGR) gene account for more than 70% of X-linked RP cases. This study aims to characterize the proximal promoter region of the human RPGR gene.

Original language	English
Pages (from-to)	3951-3958
Number of pages	8
Journal	Investigative Ophthalmology & Visual Science
Volume	53
Issue number	7
Early online date	10 May 2012
DOIs	https://doi.org/10.1167/iovs.11-8811
Publication status	Published - Jun 2012

Keywords

gene mutations
human RPGR gene

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10.1167/iovs.11-8811

Cite this

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title = "Functional characterization of the human RPGR proximal promoter",

abstract = "Mutations in the retinitis pigmentosa (RP) GTPase regulator (RPGR) gene account for more than 70% of X-linked RP cases. This study aims to characterize the proximal promoter region of the human RPGR gene. ",

keywords = "gene mutations, human RPGR gene",

author = "Xinhua Shu and Simpson, {Julie R.} and Hart, {Alan W.} and Zhihong Zeng and Patnaik, {Sarita Rani} and Philippe Gautier and Emma Murdoch and Brian Tulloch and Wright, {Alan F.}",

year = "2012",

month = jun,

doi = "10.1167/iovs.11-8811",

language = "English",

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pages = "3951--3958",

journal = "Investigative Ophthalmology & Visual Science",

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publisher = "Association for Research in Vision and Ophthalmology (ARVO)",

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T1 - Functional characterization of the human RPGR proximal promoter

AU - Shu, Xinhua

AU - Simpson, Julie R.

AU - Hart, Alan W.

AU - Zeng, Zhihong

AU - Patnaik, Sarita Rani

AU - Gautier, Philippe

AU - Murdoch, Emma

AU - Tulloch, Brian

AU - Wright, Alan F.

PY - 2012/6

Y1 - 2012/6

N2 - Mutations in the retinitis pigmentosa (RP) GTPase regulator (RPGR) gene account for more than 70% of X-linked RP cases. This study aims to characterize the proximal promoter region of the human RPGR gene.

AB - Mutations in the retinitis pigmentosa (RP) GTPase regulator (RPGR) gene account for more than 70% of X-linked RP cases. This study aims to characterize the proximal promoter region of the human RPGR gene.

KW - gene mutations

KW - human RPGR gene

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U2 - 10.1167/iovs.11-8811

DO - 10.1167/iovs.11-8811

M3 - Article

SN - 1552-5783

VL - 53

SP - 3951

EP - 3958

JO - Investigative Ophthalmology & Visual Science

JF - Investigative Ophthalmology & Visual Science

IS - 7

ER -

Functional characterization of the human RPGR proximal promoter

Abstract

Keywords

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