Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?
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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, Jahrgang 30, Nr. 2, 2, 2009, S. 96-98.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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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 -