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
High-throughput sequencing analysis of deletion mutation of TRAPPC2 in an X-linked spondyloepiphyseal dysplasia tarda pedigree
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 |
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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 |
| 图1 X连锁SEDT患者家系图 |
| Fig 1 Family diagram of the patient with X-linked SEDT |
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