Surrogate genetics and metabolic profiling for characterization of human disease alleles

Genetics

Volumn 190, Issue 4, 2012, Pages 1309-1323

  Mayfield, Jacob A ^a,d   Davies, Meara W ^a,e   Dimster Denk, Dago ^a   Pleskac, Nick ^b   McCarthy, Sean ^a   Boydston, Elizabeth A ^a   Fink, Logan ^a   Lin, Xin Xin ^a   Narain, Ankur S ^a,f   Meighan, Michael ^c   Rine, Jasper ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Berkeley High School   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF MASSACHUSETTS   (United States)

^e UNIVERSITY OF WASHINGTON   (United States)

^f EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATHIONINE BETA SYNTHASE; GLUTATHIONE; HEME; PYRIDOXINE;

ALLELE; ARTICLE; CONTROLLED STUDY; CULTURE MEDIUM; ENZYME ACTIVITY; GENETIC VARIABILITY; LIQUID CHROMATOGRAPHY; MASS SPECTROMETRY; METABOLITE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SACCHAROMYCES CEREVISIAE;

ALLELES; CHROMATOGRAPHY, LIQUID; COENZYMES; CULTURE MEDIA; CYSTATHIONINE BETA-SYNTHASE; ENZYME ACTIVATION; GENETIC COMPLEMENTATION TEST; GENOME, HUMAN; GLUTATHIONE; HEME; HOMOCYSTINURIA; HUMANS; IMMUNOBLOTTING; METABOLOME; MUTATION; PHENOTYPE; PLASMIDS; SACCHAROMYCES CEREVISIAE; VITAMIN B 6;

SACCHAROMYCES CEREVISIAE;

EID: 84859595320     PISSN: 00166731     EISSN: 19432631     Source Type: Journal    
DOI: 10.1534/genetics.111.137471     Document Type: Article

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