Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency
个 GYG1 缺乏症家族的临床异质性及表型/基因型发现
期刊:Neurology-Genetics
影响因子:3
doi:10.1212/NXG.0000000000000208
Rabah Ben Yaou, Aurélie Hubert, Isabelle Nelson, Julia R Dahlqvist, David Gaist, Nathalie Streichenberger, Maud Beuvin, Martin Krahn, Philippe Petiot, Frédéric Parisot, Fabrice Michel, Edoardo Malfatti, Norma Romero, Robert Yves Carlier, Bruno Eymard, Philippe Labrune, Morten Duno, Thomas Krag, Math