Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, Brazil
全外显子组测序显示,巴西北里奥格兰德州阿尔波特综合征的病因是新的COL4A3和COL4A4变异。
期刊:BMC Genomics
影响因子:3.5
doi:10.1186/s12864-025-11466-4.
Washington Candeia de Araújo # ,Raul Maia Falcão # ,Raquel Araujo Costa Uchoa ,Carlos Alexandre Garcia ,Arthur Quintiliano Bezerra da Silva ,Kesia Larissa Medeiros Quirino ,Francisco Paulo Freire-Neto ,Genilson Pereira Gurgel ,Paulo Ricardo Porfirio Nascimento ,Leonardo Capistrano Ferreira ,Priya Duggal ,Jorge Estefano S de Souza ,Selma M B Jeronimo