A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/jhg20157.pdf
Reference27 articles.
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3. Haut, S., Brivet, M., Touati, G., Rustin, P., Lebon, S. & Garcia-Cazorla, A. et al. A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. Hum. Genet. 113, 118–122 (2003).
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