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Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.

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作者： Sjarif DR ^[1] ; Sinke RJ ; Duran M ; Beemer FA ; Kleijer WJ ; Ploos-van-Amstel JK ; Poll-The BT

作者单位： University Children's Hospital Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands. ^[1]

关键词 Genetic Heterogeneity Glycerol Kinase Metabolism Inborn Errors Mutation 遗传异质性甘油激酶代谢缺陷先天性突变

发布时间 2013-11-20

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Journal of Medical Genetics

1998年35卷8期

650-656页

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Journal of Medical Genetics

1998年35卷8期

650-656页

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Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.

Journal of Medical Genetics

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Journal of Medical Genetics

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Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.

Journal of Medical Genetics

相似文献

Journal of Medical Genetics

相关期刊

检索历史清除