High frequencies of biotinidase (BTD) gene mutations in the Hungarian population
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-010-9152-0
Reference22 articles.
1. Cole H, Reynolds TR, Lockyer JM et al (1994a) Human serum biotinidase: cDNA cloning, sequence, and characterization. J Biol Chem 269:6566–6570
2. Cole H, Weremowicz H, Morton CC, Wolf B (1994b) Localization of serum biotinidase (BTD) to human chromosome 3 in band p25. Genomics 22:662–663
3. Dobrowolski SF, Angeletti J, Banas RA, Naylor EW (2003) Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. Mol Genet Metab 78:100–107
4. Havass Z (1991) Neonatal screening for biotinidase deficiency in East-Hungary. J Inherit Metab Dis 14:928–931
5. Heard GS, Wolf B, Jefferson LG et al (1986) Neonatal screening for biotinidase deficiency: results of a 1-year pilot study. J Pediatr 108:40–46
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3. Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations;European Journal of Human Genetics;2016-06-22
4. Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency;Pediatrics;2015-08-01
5. Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients;BMC Medical Genetics;2014-09-01
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