Identification of a Novel Homozygous SCN1B Splice-Site Variant in a Consanguineous Families With Early-Onset Epilepsy: A Case Series and Review of Literature
在近亲结婚的早发性癫痫家族中鉴定出一种新的纯合SCN1B剪接位点变异:病例系列及文献综述
期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.70214
Muhammad, Anees; Ramzan, Shafaq; Yousaf, Hammad; Ghumman, Rafia Zafar; Ali, Farhan Bahadar; Khalily, Muhammad Athar; Ali, Asmat; Ali, Wajid; Zia, Salma; Khan, Najeeb Ullah; Sarwar, Muhammad Tahir; Toft, Matias; Iqbal, Zafar; Fatima, Ambrin