Characterisation of Five Missense Mutations in the Cystathionine Beta-Synthase Gene from Three Patients with B(6)-Nonresponsive Homocystinuria
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Cited by 28 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Real-time detection of enzymatically formed hydrogen sulfide by pathogenic variants of cystathionine beta-synthase using hemoglobin I of Lucina pectinata as a biosensor;Free Radical Biology and Medicine;2024-10
2. Clinical and molecular genetic characteristics of classical homocystinuria;Proceedings of the National Academy of Sciences of Belarus, Medical series;2022-03-10
3. Classical homocystinuria, is it safe to exercise?;Molecular Genetics and Metabolism Reports;2021-06
4. Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization;Molecular Genetics and Metabolism Reports;2018-03
5. Genetics and pathophysiology of mammalian sulfate biology;Journal of Genetics and Genomics;2017-01
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