Standard
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa. / Peter, Virginie G.; Nikopoulos, Konstantinos; Quinodoz, Mathieu; Granse, Lotta; Farinelli, Pietro; Superti-Furga, Andrea; Andreasson, Sten; Rivolta, Carlo.
I:
Ophthalmic Genetics, Bind 40, Nr. 2, 2019, s. 177-181.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
Peter, VG, Nikopoulos, K, Quinodoz, M, Granse, L, Farinelli, P, Superti-Furga, A, Andreasson, S & Rivolta, C 2019, '
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa',
Ophthalmic Genetics, bind 40, nr. 2, s. 177-181.
https://doi.org/10.1080/13816810.2019.1605391APA
Peter, V. G., Nikopoulos, K., Quinodoz, M., Granse, L., Farinelli, P., Superti-Furga, A., Andreasson, S., & Rivolta, C. (2019).
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.
Ophthalmic Genetics,
40(2), 177-181.
https://doi.org/10.1080/13816810.2019.1605391Vancouver
Peter VG, Nikopoulos K, Quinodoz M, Granse L, Farinelli P, Superti-Furga A o.a.
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.
Ophthalmic Genetics. 2019;40(2):177-181.
https://doi.org/10.1080/13816810.2019.1605391Author
Peter, Virginie G. ; Nikopoulos, Konstantinos ; Quinodoz, Mathieu ; Granse, Lotta ; Farinelli, Pietro ; Superti-Furga, Andrea ; Andreasson, Sten ; Rivolta, Carlo. / A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa. I: Ophthalmic Genetics. 2019 ; Bind 40, Nr. 2. s. 177-181.
Bibtex
@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",
doi = "10.1080/13816810.2019.1605391",
language = "English",
volume = "40",
pages = "177--181",
journal = "Ophthalmic Genetics",
issn = "1381-6810",
publisher = "Taylor & Francis",
number = "2",
}
RIS
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
Y1 - 2019
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
VL - 40
SP - 177
EP - 181
JO - Ophthalmic Genetics
JF - Ophthalmic Genetics
SN - 1381-6810
IS - 2
ER -
