Isolation, sequence identification, and tissue expression profile of 3 novel porcine genes:NCF2, BCKDHB andBCKDHA
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/BF03195651.pdf
Reference11 articles.
1. Chinsky J, Appel M, Almashanu S, Costeas P, Ambulos N Jr, Carmi R, 1998. A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1 alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Hum Mutat 12: 136.
2. Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA, 2001. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. Am J Hum Genet 69: 863–868.
3. Flaschker N, Feyen O, Fend S, Simon E, Schadewaldt P, Wendel U, 2007. Description of the mutations in 15 subjects with variant forms of maple syrup urine disease. J Inherit Metab Dis 30: 903–909.
4. Gauss KA, Bunger PL, Crawford MA, McDermott BE, Swearingen R, Nelson-Overton LK, et al. 2006. Variants of the 5’-untranslated region of human NCF2: expression and translational efficiency. Gene 366: 169–179.
5. Hardison RC, 2003. Comparative genomics. PLoS Biol 1: E58.
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