Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients
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Title
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients
Authors
Keywords
Lactic Acidosis, Intractable Epilepsy, Epileptic Encephalopathy, Culture Skin Fibroblast, Lactate Peak
Journal
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 36, Issue 1, Pages 43-53
Publisher
Springer Nature
Online
2012-05-07
DOI
10.1007/s10545-012-9487-9
References
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