Two novel missense mutations in the cystathionine β-synthase gene in homocystinuric patients
- 1 August 1995
- journal article
- case report
- Published by Springer Nature in Human Genetics
- Vol. 96 (2) , 249-250
- https://doi.org/10.1007/bf00207394
Abstract
No abstract availableKeywords
This publication has 5 references indexed in Scilit:
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- Human cystathionine β-synthase cDNA: sequence, alternative splicing and expression in cultured cellsHuman Molecular Genetics, 1993
- THE GENE FOR CYSTATHIONINE BETA-SYNTHASE (CBS) MAPS TO THE SUBTELOMERIC REGION ON HUMAN CHROMOSOME-21Q AND TO PROXIMAL MOUSE CHROMOSOME-171988
- Methionine metabolism in mammals. Distribution of homocysteine between competing pathways.Journal of Biological Chemistry, 1984