A Novel Splicing Mutation DNAH5 C.13,338 + 5G > C is Involved in the Pathogenesis of Primary Ciliary Dyskinesia in a Family with Primary Familial Brain Calcification
BMC Pulmonary Medicine（2024）
关键词
Primary ciliary dyskinesia,Primary familial brain calcification,DNAH5,MYORG,Splicing mutation
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