COL6A1基因嵌合突变的Bethlem肌病一例并文献复习
吴若豪, 邱坤银, 唐文婷, 何展文
Identification of a novel chimeric mutation in the COL6A1 gene of a child with Bethlem myopathy: a case report and literature review
Wu Ruohao, Qiu Kunyin, Tang Wenting, He Zhanwen
新医学
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2021, (12): 941
-946
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DOI: 10.3969/j.issn.0253-9802.2021.12.010
