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
下载链接：
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA705268
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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
