X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation

Autor: Dahl, H. H., Lise Lotte Hansen, Brown, R. M., Danks, D. M., Rogers, J. G., Brown, G. K.

Publikováno v: Dahl, H H, Hansen, L L, Brown, R M, Danks, D M, Rogers, J G & Brown, G K 1992, ' X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation ' Journal of Inherited Metabolic Disease, vol. 15, no. 6, pp. 835-47 .
Aarhus University

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2ceed600bce65cb4cb98cc21b6416e00
https://pure.au.dk/portal/da/publications/xlinked-pyruvate-dehydrogenase-e1-alpha-subunit-deficiency-in-heterozygous-females-variable-manifestation-of-the-same-mutation(b0d85f98-1d32-484d-943c-c6aa62660b93).html

Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype.

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Pyruvate dehydrogenase E1α subunit genes in the mouse: Mapping and comparison with human homologs.

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