Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine β-synthase protein in two French pyridoxine-responsive homocystinuria patients-Reference-Cited by-同舟云学术

Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine β-synthase protein in two French pyridoxine-responsive homocystinuria patients

Published:1997 Issue:1 Volume:9 Page:81-82
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Aral Bernard,Coudé Marie,London Jacqueline,Aupetit Joelle,Chassé Jean-François,Zabot Marie-Thérèse,Chadefaux-Vekemans Bernadette,Kamoun Pierre

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference6 articles.

1. Molecular basis of cystathionine β-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria

2. Screening for mutations by expressing patient cDNA segments inE. coli: Homocystinuria due to cystathionine β-synthase deficiency

3. Human cystathionine β-synthase cDNA: sequence, alternative splicing and expression in cultured cells

4. Molecular basis of phenotype expression in homocystinuria

5. A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes.

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