Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry
Link
http://link.springer.com/content/pdf/10.1007/s11011-019-00435-y.pdf
Reference39 articles.
1. Abiri M et al (2016) Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis. Mutat Res 786:34–40. https://doi.org/10.1016/j.mrfmmm.2016.01.005
2. Abiri M et al (2017) In silico analysis of novel mutations in maple syrup urine disease patients from Iran. Metab Brain Dis 32:105–113. https://doi.org/10.1007/s11011-016-9867-1
3. Adzhubei IA et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249. https://doi.org/10.1038/nmeth0410-248
4. Ævarsson A, Chuang JL, Wynn RM, Turley S, Chuang DT, Hol WGJ (2000) Crystal structure of human branched-chain α-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease. Structure 8(3):277–291
5. Al-Shamsi A, Baker A, Dhawan A, Hertecant J (2016) Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor. JIMD Rep 30:59–62. https://doi.org/10.1007/8904_2016_532
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