Functional modeling of vitamin responsiveness in yeast: A common pyridoxine-responsive cystathionine β-synthase mutation in homocystinuria

Human Molecular Genetics

Volumn 6, Issue 13, 1997, Pages 2213-2221

  Kim, Cecilia E ^a   Gallagher, Paula M ^b,g   Guttormsen, Anne B ^c   Refsum, Helga ^c   Ueland, Per M ^c   Ose, Leiv ^d   Følling, Ivar ^e   Whitehead, Alexander S ^b   Tsai, Michael Y ^f   Kruger, Warren D ^a  

^a FOX CHASE CANCER CENTER   (United States)

^b TRINITY COLLEGE DUBLIN   (Ireland)

^c UNIVERSITY OF BERGEN   (Norway)

^d OSLO UNIVERSITY HOSPITAL   (Norway)

^e AKERSHUS UNIVERSITY HOSPITAL   (Norway)

^f UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^g BEAUMONT HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATHIONINE BETA SYNTHASE; PYRIDOXINE;

ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; DRUG RESPONSE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HOMOCYSTINURIA; HUMAN; MALE; NONHUMAN; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; YEAST;

ADOLESCENT; ADULT; ALLELES; CHILD; CLONING, MOLECULAR; CYSTATHIONINE BETA-SYNTHASE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, RECESSIVE; GENOTYPE; HOMOCYSTINURIA; HUMANS; INTRONS; LINKAGE DISEQUILIBRIUM; MALE; MULTIGENE FAMILY; NORWAY; POINT MUTATION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PYRIDOXINE; RECOMBINANT FUSION PROTEINS; SACCHAROMYCES CEREVISIAE;

EID: 9844226203     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

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