Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients-Reference-Cited by-同舟云学术

Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients

Published:2011-06-07 Issue:7 Volume:32 Page:835-842
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Cozar Mónica,Urreizti Roser,Vilarinho Laura,Grosso Carola,Dodelson de Kremer Raquel,Asteggiano Carla G.,Dalmau Jaime,García Ana María,Vilaseca María Antonia,Grinberg Daniel,Balcells Susana

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference45 articles.

1. Redox regulation and reaction mechanism of human cystathionine-β-synthase: a PLP-dependent hemesensor protein;Banerjee;Arch Biochem Biophys,2005

2. Expression of human cystathionine beta-synthase in Escherichia coli: purification and characterization;Bukovska;Protein Expr Purif,1994

3. Two novel mutations at the Cystathionine B-synthase gene of homocystinuric portugese patients;Castro;J Inherited Metab Dis,1999

4. Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria;Dawson;Eur J Hum Genet,1997

5. Identical genotipes in siblings with differnt homocystinuric phenotypes: identification of three mutations in cystationine B-synthase usin en improved bacterial expression system;de Franchis;Hum Mol Genet,1994

Cited by 17 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. Metabolomics used in clinical diagnosis related to newborn screening;Metabolomics;2023

2. Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency;BMC Ophthalmology;2021-05-13

3. Seven novel genetic variants in a North Indian cohort with classical homocystinuria;Scientific Reports;2020-10-14

4. Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening;International Journal of Neonatal Screening;2020-07-30

5. 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