Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus

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Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus

Author: Mayer, Anja K.; Mahajnah, Muhammad; Thomas, Mervyn G.; Cohen, Yuval; Habib, Adib; Schulze, Martin; Maconachie, Gail D. E.; AlMoallem, Basamat; De Baere, Elfride; Lorenz, Birgit; Traboulsi, Elias, I; Kohl, Susanne; Azem, Abdussalam; Bauer, Peter; Gottlob, Irene; Sharkia, Rajech; Wissinger, Bernd
Tübinger Autor(en):
Schulze, Martin
Kohl, Susanne
Bauer, Peter
Wissinger, Bernd
Mayer, Anja Kathrin
Published in: Brain (2019), Bd. 142, S. 1528-1534
Verlagsangabe: Oxford Univ Press
Language: English
Full text: http://dx.doi.org/10.1093/brain/awz098
ISSN: 1460-2156
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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