Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome
Galloway-Mowat综合征四名患者中新型O-唾液酸糖蛋白内肽酶变体的基因组、蛋白质组和表型谱
期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2022.806190
Ali Alghamdi, Malak; Benabdelkamel, Hicham; Masood, Afshan; Saheb Sharif-Askari, Narjes; Hachim, Mahmood Y; Alsheikh, Hamad; Hamad, Muddathir H; Salih, Mustafa A; Bashiri, Fahad A; Alhasan, Khalid; Kashour, Tarek; Guatibonza Moreno, Pilar; Schröder, Sabine; Karageorgou, Vasiliki; Bertoli-Avella, Aida M; Alkhalidi, Hisham; Jamjoom, Dima Z; Alorainy, Ibrahim A; Alfadda, Assim A; Halwani, Rabih