Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations

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作者： Chu, Jordan ^[1] ; Pupavac, Mihaela ^[2] ; Watkins, David ; Tian, Xia ; Feng, Yanming ; Chen, Stella ; Fenter, Remington ; Zhang, Victor W. ; Wang, Jing ; Wong, Lee-Jun ; Rosenblatt, David S.

作者单位： McGill Univ, Dept Human Genet, Montreal, PQ, Canada ^[1] Baylor Coll Med, Dept Mol Genet, Houston, TX 77030 USA ^[2]

关键词 Next generation sequencing mut Methylmalonic aciduria Methylmalonyl-CoA mutase Vitamin B-12

发布时间 2017-08-30

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Molecular genetics and metabolism

2016年118卷4期

264-271页

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Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations

Molecular genetics and metabolism

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Molecular genetics and metabolism

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Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations

Molecular genetics and metabolism

相似文献

Molecular genetics and metabolism

相关期刊

检索历史清除