Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis. [electronic resource]
- Human molecular genetics Mar 2001
- 635-43 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0964-6906
10.1093/hmg/10.6.635 doi
Amino Acid Sequence Cystathionine beta-Synthase--genetics Gene Expression Regulation, Enzymologic Genetic Testing Homocystinuria--enzymology Humans Models, Molecular Molecular Sequence Data Mutagenesis Protein Conformation Protein Structure, Tertiary Saccharomyces cerevisiae--genetics Sequence Homology, Amino Acid