Complementation Analysis of Maple Syrup Urine Disease in Heterokaryons derived from Cultured Human Fibroblasts
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/243533a0.pdf
Reference12 articles.
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1. Heterogeneity in maple syrup urine disease: Aspects of cofactor requirement and complementation in cultured fibroblasts;Clinical Genetics;2008-04-23
2. Maple syrup urine disease: It has come a long way;The Journal of Pediatrics;1998-03
3. Molecular defects of the branched-chain α-keto acid dehydrogenase complex: Maple syrup urine disease due to mutations of the E1α or E1β subunit gene;Alpha-Keto Acid Dehydrogenase Complexes;1996
4. Deficiency of the E1β subunit in the branched-chain α-keto acid dehydrogenase complex due to a single base substitution to the intron 5, resulting in two alternatively spliced mRNAs in patient with maple syrup urine disease;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;1994-02-22
5. Heterogeneity of mutations in Maple Syrup Urine Disease (MSUD): screening and identification of affected E1α and E1β subunits of the branched-chain α-keto-acid dehydrogenase multienzyme complex;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;1993-11
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