Case Report: A Novel Frameshift Mutation of the DMD gene in a Chinese family with Duchenne Muscular Dystrophy
Source: CNGBdb Project (ID CNP0002803)
Source: CNGBdb Project (ID CNP0002803)
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Description: we conducted CNVplex and whole exome sequencing (WES) on a 6-year-old boy with a familial history of DMD. As a result, WES discovered a novel single-nucleotide deletion in exon 48 (NM_004006.2:c.6963del, p.Asp2322ThrfsTer16).
Data type: Exome; Variation
Sample scope: Monoisolate
Relevance: Medical
Submitter: 吴江芬(Jiangfen Wu); 贵州大学
Release date: 2022-03-21
Last updated: 2022-03-21
DOI: 10.26036/CNP0002803
Data size: 8.91GB