Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene

Autor: Jean-François Korobelnik, Xavier Zanlonghi, Dominique Bonneau, Benoit Arveiler, Caroline Rooryck-Thambo, Perrine Pennamen, Yaurama Perdomo, Vincent Michaud, Sabine Defoort-Dhellemmes, C. Paya, Hélène Dollfus, Fanny Morice-Picard, Christian P. Hamel, Claudio Plaisant, Solene Monfermé, Catherine Duncombe-Poulet, Eulalie Lasseaux, Isabelle Drumare

Publikováno v: British Journal of Ophthalmology
British Journal of Ophthalmology, BMJ Publishing Group, 2019, 103 (9), pp.1239-1247. ⟨10.1136/bjophthalmol-2018-312729⟩

AimOculocutaneous albinism type 1 (OCA1) is due to TYR mutations. c.1205G>A/p.Arg402Gln (R402Q) is a thermosensitive variant of the TYR gene that has been reported to be responsible for mild forms of OCA1. The aim of our study was to define the pheno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e0e40b292da1028e252e53b6e69c152
https://doi.org/10.1136/bjophthalmol-2018-312729