Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis
ABCA12基因突变谱及64例常染色体隐性遗传性先天性鱼鳞病患者的基因型-表型相关性研究
期刊:Genes
影响因子:2.8
doi:10.3390/genes14030717
Hotz, Alrun; Kopp, Julia; Bourrat, Emmanuelle; Oji, Vinzenz; Süßmuth, Kira; Komlosi, Katalin; Bouadjar, Bakar; Tantcheva-Poór, Iliana; Hellström Pigg, Maritta; Betz, Regina C; Giehl, Kathrin; Schedel, Fiona; Weibel, Lisa; Schulz, Solveig; Stölzl, Dora V; Tadini, Gianluca; Demiral, Emine; Berggard, Karin; Zimmer, Andreas D; Alter, Svenja; Fischer, Judith
