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Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease

Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease

Sremba, L.J.; Chang, R.C.; Elbalalesy, N.M.; Cambray-Forker, E.J.; Abdenur, J.E.

期刊名称Molecular Genetics and Metabolism Reports
作者Sremba, L.J.; Chang, R.C.; Elbalalesy, N.M.; Cambray-Forker, E.J.; Abdenur, J.E.
卷第1卷
印刷ISSN2214-4269
文件大小1300.51KB
发表时间2014
DOI10.1016/j.ymgmr.2014.07.008
页码368-372

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