Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh
全外显子组测序在孟加拉国发现了多种罕见儿科遗传疾病的高外显率隐性突变。
期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-021-00173-0
Akter, Hosneara; Hossain, Mohammad Shahnoor; Dity, Nushrat Jahan; Rahaman, Md Atikur; Furkan Uddin, K M; Nassir, Nasna; Begum, Ghausia; Hameid, Reem Abdel; Islam, Muhammad Sougatul; Tusty, Tahrima Arman; Basiruzzaman, Mohammad; Sarkar, Shaoli; Islam, Mazharul; Jahan, Sharmin; Lim, Elaine T; Woodbury-Smith, Marc; Stavropoulos, Dimitri James; O'Rielly, Darren D; Berdeiv, Bakhrom K; Nurun Nabi, A H M; Ahsan, Mohammed Nazmul; Scherer, Stephen W; Uddin, Mohammed
