Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene
Release date:
2023-06-16
Description:
Herein, compound heterozygous mutations of LAMA2: c.1693C>T (maternally inherited) and c.9212-6T>G (paternally inherited) were identified in a Chinese girl diagnosed as LGMD23.
For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.
Organization: Women's hospital, School of Medicine, Zhejiang University
Submission date: 2023-02-03
Requests: -
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HRA004334.xlsx