A novel deletion in dysferlin gene in a patient with limb dystrophy type 2 in Pakistan
收藏NIAID Data Ecosystem2026-03-12 收录
官方服务：
资源简介：
We identified a family from Pakistan with four afflicted members of LGMD2B. In order to know the genetic mutation cause, we perform whole exome sequencing. A novel deletion in exon 27 was detected in a 33 years old female member.
创建时间：
2021-02-26
