Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families carrying Mutations in PRPF8

Cécilia G Maubaret; Veronika Vaclavik; Rajarshi Mukhopadhyay; Naushin H Waseem; Amanda Churchill; Graham E Holder; Anthony T Moore; Shomi S Bhattacharya; Andrew R Webster

doi:10.1167/iovs.11-8372

Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families carrying Mutations in PRPF8

Cécilia G Maubaret, Veronika Vaclavik, Rajarshi Mukhopadhyay, Naushin H Waseem, Amanda Churchill, Graham E Holder, Anthony T Moore, Shomi S Bhattacharya, Andrew R Webster

Research output: Contribution to journal › Article (Academic Journal) › peer-review

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Abstract

The aim of this study was to report detailed genotype/phenotype correlation in two British autosomal dominant retinitis pigmentosa (adRP) families with recently described mutations in PRPF8.

Translated title of the contribution	Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families carrying Mutations in PRPF8
Original language	English
Pages (from-to)	9304 - 9309
Number of pages	6
Journal	Investigative Ophthalmology and Visual Science
Volume	52
Issue number	13
DOIs	https://doi.org/10.1167/iovs.11-8372
Publication status	Published - Dec 2011

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Maubaret, C. G., Vaclavik, V., Mukhopadhyay, R., Waseem, N. H., Churchill, A., Holder, G. E., Moore, A. T., Bhattacharya, S. S., & Webster, A. R. (2011). Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families carrying Mutations in PRPF8. Investigative Ophthalmology and Visual Science, 52(13), 9304 - 9309. https://doi.org/10.1167/iovs.11-8372

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title = "Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families carrying Mutations in PRPF8",

abstract = "The aim of this study was to report detailed genotype/phenotype correlation in two British autosomal dominant retinitis pigmentosa (adRP) families with recently described mutations in PRPF8.",

author = "Maubaret, \{C{\'e}cilia G\} and Veronika Vaclavik and Rajarshi Mukhopadhyay and Waseem, \{Naushin H\} and Amanda Churchill and Holder, \{Graham E\} and Moore, \{Anthony T\} and Bhattacharya, \{Shomi S\} and Webster, \{Andrew R\}",

year = "2011",

month = dec,

doi = "10.1167/iovs.11-8372",

language = "English",

volume = "52",

pages = "9304 -- 9309",

journal = "Investigative Ophthalmology and Visual Science",

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publisher = "Association for Research in Vision and Ophthalmology Inc.",

number = "13",

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Maubaret, CG, Vaclavik, V, Mukhopadhyay, R, Waseem, NH, Churchill, A, Holder, GE, Moore, AT, Bhattacharya, SS & Webster, AR 2011, 'Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families carrying Mutations in PRPF8', Investigative Ophthalmology and Visual Science, vol. 52, no. 13, pp. 9304 - 9309. https://doi.org/10.1167/iovs.11-8372

Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families carrying Mutations in PRPF8. / Maubaret, Cécilia G; Vaclavik, Veronika; Mukhopadhyay, Rajarshi et al.
In: Investigative Ophthalmology and Visual Science, Vol. 52, No. 13, 12.2011, p. 9304 - 9309.

Research output: Contribution to journal › Article (Academic Journal) › peer-review

TY - JOUR

T1 - Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families carrying Mutations in PRPF8

AU - Maubaret, Cécilia G

AU - Vaclavik, Veronika

AU - Mukhopadhyay, Rajarshi

AU - Waseem, Naushin H

AU - Churchill, Amanda

AU - Holder, Graham E

AU - Moore, Anthony T

AU - Bhattacharya, Shomi S

AU - Webster, Andrew R

PY - 2011/12

Y1 - 2011/12

N2 - The aim of this study was to report detailed genotype/phenotype correlation in two British autosomal dominant retinitis pigmentosa (adRP) families with recently described mutations in PRPF8.

AB - The aim of this study was to report detailed genotype/phenotype correlation in two British autosomal dominant retinitis pigmentosa (adRP) families with recently described mutations in PRPF8.

U2 - 10.1167/iovs.11-8372

DO - 10.1167/iovs.11-8372

M3 - Article (Academic Journal)

C2 - 22039234

SN - 1552-5783

VL - 52

SP - 9304

EP - 9309

JO - Investigative Ophthalmology and Visual Science

JF - Investigative Ophthalmology and Visual Science

IS - 13

ER -

Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families carrying Mutations in PRPF8

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