Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.

Human mutation

Volumn 27, Issue 2, 2006, Pages 211-

  Urreizti, Roser ^a   Asteggiano, Carla ^a   Cozar, Mónica ^a   Frank, Nina ^a   Vilaseca, María Antonia ^a   Grinberg, Daniel ^a   Balcells, Susana ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATHIONINE BETA SYNTHASE;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; ESCHERICHIA COLI; GENETICS; HUMAN; METABOLISM; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PROTEIN CONFORMATION; PROTEIN QUATERNARY STRUCTURE; SEQUENCE HOMOLOGY; WESTERN BLOTTING;

ALLELES; AMINO ACID SEQUENCE; BLOTTING, WESTERN; CYSTATHIONINE BETA-SYNTHASE; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; ESCHERICHIA COLI; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PROTEIN CONFORMATION; PROTEIN STRUCTURE, QUATERNARY; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 33646443313     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9395     Document Type: Article

References (0)