A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with west syndrome and pyruvate oxidation deficiency

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作者： Mayr,J.A. ^[1] ; Koch,J. ^[2] ; Fauth,C. ; Zimmermann,F.A. ; Rauscher,C. ; Zschocke,J. ; Sperl,W.

作者单位： Department of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria ^[1] Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria ^[2]

关键词 CDKL5 Epilepsy Mitochondrial disease Pyruvate dehydrogenase complex deficiency X-inactivation

发布时间 2013-11-20

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Neuropediatrics

2012年43卷3期

130-134页

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A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with west syndrome and pyruvate oxidation deficiency

Neuropediatrics

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Neuropediatrics

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A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with west syndrome and pyruvate oxidation deficiency

Neuropediatrics

相似文献

Neuropediatrics

相关期刊

检索历史清除