Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease.

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作者： Wenjie,Li ^[1] ; Xianze,Meng ^[2] ; Weiqing,Wang ^[1] ; Jinfeng,Lv ^[1] ; Yingmei,Sun ^[1] ; Yanan,Lv ^[1] ; Caijuan,Wang ^[1] ; Hongqin,Wang ^[1] ; Mei,Wang ^[1] ; Dongpo,Song ^[1]

作者单位： Neonatal Screening Lab Qingdao Women and Children Hospital Qingdao Shandong China. ^[1] People's Liberation Army No 401 Hospital Qingdao Shandong China. ^[2]

关键词 BCKDHB gene maple syrup urine disease neonate silico analysis

DOI 10.1002/ccr3.1774

PMID 30349713

发布时间 2023-09-28

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Clinical case reports

2018年6卷10期

1989-1993页

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Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease.

Clinical case reports

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Clinical case reports

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Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease.

Clinical case reports

相似文献

Clinical case reports

相关期刊

检索历史清除