A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

Virginie G. Peter; Konstantinos Nikopoulos; Mathieu Quinodoz; Lotta Granse; Pietro Farinelli; Andrea Superti-Furga; Sten Andreasson; Carlo Rivolta

doi:10.1080/13816810.2019.1605391

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

Virginie G. Peter, Konstantinos Nikopoulos, Mathieu Quinodoz, Lotta Granse, Pietro Farinelli, Andrea Superti-Furga, Sten Andreasson, Carlo Rivolta

Cellebiologi og Fysiologi

3 Citationer (Scopus)

Originalsprog	Engelsk
Tidsskrift	Ophthalmic Genetics
Vol/bind	40
Udgave nummer	2
Sider (fra-til)	177-181
ISSN	1381-6810
DOI	https://doi.org/10.1080/13816810.2019.1605391
Status	Udgivet - 4 mar. 2019

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10.1080/13816810.2019.1605391

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@article{3bc52f4f70e54db6ba18258335296afe,

title = "A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa",

keywords = "IDH3A, retinitis pigmentosa, isocitrate dehydrogenase",

author = "Peter, {Virginie G.} and Konstantinos Nikopoulos and Mathieu Quinodoz and Lotta Granse and Pietro Farinelli and Andrea Superti-Furga and Sten Andreasson and Carlo Rivolta",

year = "2019",

month = mar,

day = "4",

doi = "10.1080/13816810.2019.1605391",

language = "English",

volume = "40",

pages = "177--181",

journal = "Ophthalmic Genetics",

issn = "1381-6810",

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TY - JOUR

T1 - A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

AU - Peter, Virginie G.

AU - Nikopoulos, Konstantinos

AU - Quinodoz, Mathieu

AU - Granse, Lotta

AU - Farinelli, Pietro

AU - Superti-Furga, Andrea

AU - Andreasson, Sten

AU - Rivolta, Carlo

PY - 2019/3/4

Y1 - 2019/3/4

KW - IDH3A

KW - retinitis pigmentosa

KW - isocitrate dehydrogenase

U2 - 10.1080/13816810.2019.1605391

DO - 10.1080/13816810.2019.1605391

M3 - Journal article

C2 - 31012789

SN - 1381-6810

VL - 40

SP - 177

EP - 181

JO - Ophthalmic Genetics

JF - Ophthalmic Genetics

IS - 2

ER -

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

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