X连锁迟发性脊椎骨骺发育不良家系TRAPPC2基因缺失突变的高通量测序分析
刘宇, 王环环, 肖冰, 唐利芳
High-throughput sequencing analysis of deletion mutation of TRAPPC2 in an X-linked spondyloepiphyseal dysplasia tarda pedigree
LIU Yu, WANG Huanhuan, XIAO Bing, TANG Lifang
上海交通大学学报(医学版)
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2024, (3): 407
-411
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DOI: 10.3969/j.issn.1674-8115.2024.03.015