Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria
Author:
Affiliation:
1. Institute of Human Genetics, National Institutes of Health Philippines
2. Department of Pediatrics; University of the Philippines College of Medicine-Philippine General Hospital; Manila Philippines
Funder
National Institutes of Health Philippines
Institute of Human Genetics
Publisher
Wiley
Subject
Pediatrics, Perinatology, and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ped.12666/fullpdf
Reference19 articles.
1. High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia;Bermúdez;Hum. Mutat.,2006
2. Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: High prevalence of T191M and absence of I278T or G307S;Urreizti;Hum. Mutat.,2003
3. Homocystinuria in Taiwan: An inordinately high prevalence in an Austronesian aboriginal tribe, Tao;Lu;Mol. Genet. Metab.,2012
4. A novel mutation of cystathionine beta-synthase gene in a Thai boy with homocystinuria;Sirachainan;J. Pediatr. Hematol. Oncol.,2009
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3. Seven novel genetic variants in a North Indian cohort with classical homocystinuria;Scientific Reports;2020-10-14
4. CBS gene polymorphism and promoter methylation‐mediating effects on the efficacy of folate therapy in patients with hyperhomocysteinemia;The Journal of Gene Medicine;2020-04
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