Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease
Author:
Affiliation:
1. Neonatal Screening Lab; Qingdao Women and Children Hospital; Qingdao Shandong China
2. People's Liberation Army No 401 Hospital; Qingdao Shandong China
Publisher
Wiley
Subject
General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ccr3.1774/fullpdf
Reference23 articles.
1. Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: report on eight cases;Li;Eur J Med Genet,2015
2. L-carnitine prevents oxidative stress in the brains of rats subjected to a chemically induced chronic model of MSUD;Mescka;Mol Neurobiol,2016
3. Analysis of gene mutations in Chinese patients with maple syrup urine disease;Yang;Mol Genet Metab,2012
4. Wernicke-like encephalopathy during classic maple syrup urine disease decompensation;Manara;J Inherit Metab Dis,2012
5. Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients;Gupta;Eur J Med Genet,2015
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1. Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA : A case report;JIMD Reports;2022-09-20
2. Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population;Scientific Reports;2021-09-23
3. Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease;Molecular Genetics & Genomic Medicine;2020-06-09
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