Research ExplorerPublicationsMutations in TOPORS: a rare cause of autosomal dominant reti...

Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?

Standard

Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe? / Schob, Claudia; Orth, Ulrike; Gal, Andreas; Kindler, Stefan; Chakarova, Christina F; Bhattacharya, Shomi S; Rüther, Klaus.

In: OPHTHALMIC GENET, Vol. 30, No. 2, 2, 2009, p. 96-98.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Schob, C, Orth, U, Gal, A, Kindler, S, Chakarova, CF, Bhattacharya, SS & Rüther, K 2009, 'Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?', OPHTHALMIC GENET, vol. 30, no. 2, 2, pp. 96-98. <http://www.ncbi.nlm.nih.gov/pubmed/19373681?dopt=Citation>

APA

Schob, C., Orth, U., Gal, A., Kindler, S., Chakarova, C. F., Bhattacharya, S. S., & Rüther, K. (2009). Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe? OPHTHALMIC GENET, 30(2), 96-98. [2]. http://www.ncbi.nlm.nih.gov/pubmed/19373681?dopt=Citation

Vancouver

Schob C, Orth U, Gal A, Kindler S, Chakarova CF, Bhattacharya SS et al. Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe? OPHTHALMIC GENET. 2009;30(2):96-98. 2.

Bibtex

@article{0a6be34fae8a486e8e0d4d9ed1138606,
title = "Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?",
abstract = "Mutations in TOPORS cause autosomal dominant retinitis pigmentosa (adRP). Examination of 160 adRP patients from continental Europe revealed nine exonic single nucleotide variants, eight of which reside in the coding region; three synonymous single nucleotide polymorphisms (SNPs; c.2319T > C, c.2991T > C and c.1560A > G), three nonsynonymous SNPs (c.58C > T/p.P20S, c.74C >G/p.S25W and c.1730C > A/p.S577Y) and two novel missense mutations (c.1205A > C/p.Q402P and c.1818T > G/p.S606R). Whether the latter two variants represent adRP causing mutations awaits further analysis.",
author = "Claudia Schob and Ulrike Orth and Andreas Gal and Stefan Kindler and Chakarova, {Christina F} and Bhattacharya, {Shomi S} and Klaus R{\"u}ther",
year = "2009",
language = "Deutsch",
volume = "30",
pages = "96--98",
journal = "OPHTHALMIC GENET",
issn = "1381-6810",
publisher = "informa healthcare",
number = "2",

}

RIS

TY - JOUR

T1 - Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?

AU - Schob, Claudia

AU - Orth, Ulrike

AU - Gal, Andreas

AU - Kindler, Stefan

AU - Chakarova, Christina F

AU - Bhattacharya, Shomi S

AU - Rüther, Klaus

PY - 2009

Y1 - 2009

N2 - Mutations in TOPORS cause autosomal dominant retinitis pigmentosa (adRP). Examination of 160 adRP patients from continental Europe revealed nine exonic single nucleotide variants, eight of which reside in the coding region; three synonymous single nucleotide polymorphisms (SNPs; c.2319T > C, c.2991T > C and c.1560A > G), three nonsynonymous SNPs (c.58C > T/p.P20S, c.74C >G/p.S25W and c.1730C > A/p.S577Y) and two novel missense mutations (c.1205A > C/p.Q402P and c.1818T > G/p.S606R). Whether the latter two variants represent adRP causing mutations awaits further analysis.

AB - Mutations in TOPORS cause autosomal dominant retinitis pigmentosa (adRP). Examination of 160 adRP patients from continental Europe revealed nine exonic single nucleotide variants, eight of which reside in the coding region; three synonymous single nucleotide polymorphisms (SNPs; c.2319T > C, c.2991T > C and c.1560A > G), three nonsynonymous SNPs (c.58C > T/p.P20S, c.74C >G/p.S25W and c.1730C > A/p.S577Y) and two novel missense mutations (c.1205A > C/p.Q402P and c.1818T > G/p.S606R). Whether the latter two variants represent adRP causing mutations awaits further analysis.

M3 - SCORING: Zeitschriftenaufsatz

VL - 30

SP - 96

EP - 98

JO - OPHTHALMIC GENET

JF - OPHTHALMIC GENET

SN - 1381-6810

IS - 2

M1 - 2

ER -