ETHE1

Gene name: ethylmalonic encephalopathy 1
OMIM ID: 608451
Chromosome location: 19q13.32

Mutations

Disease/Phenotype	Ethylmalonic encephalopathy
Reference transcript	NM_014297.3
DNA Change	c.375_505del130
A.A. Change	p.Ala126Stop
Exon/Intron	exon 4
Mutation Type	deletion
Reference	Barth M, Ottolenghi C, Hubert L, Chr?tien D, Serre V, Gobin S, Romano S, Vassault A, Sefiani A, Ricquier D, Boddaert N, Brivet M, de Keyzer Y, Munnich A, Duran M, Rabier D, Valayannopoulos V, de Lonlay P.Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. J Inherit Metab Dis. 2010 Oct 27.

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