Author:
Bachmann-Gagescu R.,Merritt J. Lawrence,Hahn S. H.
Subject
Genetics (clinical),Genetics
Reference11 articles.
1. Cameron JM, Levandovskiy V, Mackay N, Tein I, Robinson BH (2004) Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1 alpha gene. Am J Med Genet A 131: 59–66
2. Chun K, MacKay N, Petrova-Benedict R, Robinson BH (1993) Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex. Hum Mol Genet 4: 449–454
3. Chun K, MacKay N, Petrova-Benedict R et al (1995) Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex. Am J Hum Genet 56: 558–569
4. Debray FG, Lambert M, Gagne R et al (2008) Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia. Neuropediatrics 39: 20–23
5. Kerr DS, Berry SA, Lusk MM, Ho L, Patel MS (1988) A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts. Pediatr Res 24: 95–100
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