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The Journal of Clinical Investigation
|
September 1, 1991
Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex
C R Fisher, J L Chuang, R P Cox, et al.
Biochemical and Biophysical Research Communications
|
January 31, 1991
A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34
C W Fisher, K S Lau, C R Fisher, et al.
The Journal of Biological Chemistry
|
July 25, 1984
Catalytic and structural properties of the dihydrolipoyl transacylase component of bovine branched-chain alpha-keto acid dehydrogenase
D T Chuang, C C Hu, L S Ku, et al.
The Journal of Clinical Investigation
|
March 1, 1995
Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients
J L Chuang, J R Davie, J M Chinsky, et al.
American Journal of Human Genetics
|
February 1, 1993
Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations
C W Fisher, C R Fisher, J L Chuang, et al.
The Journal of Biological Chemistry
|
November 25, 1992
Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase complex and characterization of an E2 pseudogene
K S Lau, W J Herring, J L Chuang, et al.
The Journal of Biological Chemistry
|
January 25, 1992
Cloning and expression in Escherichia coli of mature E1 beta subunit of bovine mitochondrial branched-chain alpha-keto acid dehydrogenase complex. Mapping of the E1 beta-binding region on E2
R M Wynn, J L Chuang, J R Davie, et al.
Genomics
|
July 1, 1991
Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31
S M Zneimer, K S Lau, R L Eddy, et al.
The Journal of Biological Chemistry
|
June 25, 1988
Isolation and sequencing of a cDNA encoding the decarboxylase (E1)alpha precursor of bovine branched-chain alpha-keto acid dehydrogenase complex. Expression of E1 alpha mRNA and subunit in maple-syrup-urine-disease and 3T3-L1 cells
C W Hu, K S Lau, T A Griffin, et al.
Geobiology
|
September 4, 2017
Carbon isotope fractionation by anoxygenic phototrophic bacteria in euxinic Lake Cadagno
N R Posth, L A Bristow, R P Cox, et al.
Page
of 16
Search research articles
Search
Showing results (141-150 of 153) with videos related to
Sort By:
Page
of 16
The Journal of Clinical Investigation
|
September 1, 1991
Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex
C R Fisher, J L Chuang, R P Cox, et al.
Biochemical and Biophysical Research Communications
|
January 31, 1991
A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34
C W Fisher, K S Lau, C R Fisher, et al.
The Journal of Biological Chemistry
|
July 25, 1984
Catalytic and structural properties of the dihydrolipoyl transacylase component of bovine branched-chain alpha-keto acid dehydrogenase
D T Chuang, C C Hu, L S Ku, et al.
The Journal of Clinical Investigation
|
March 1, 1995
Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients
J L Chuang, J R Davie, J M Chinsky, et al.
American Journal of Human Genetics
|
February 1, 1993
Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations
C W Fisher, C R Fisher, J L Chuang, et al.
The Journal of Biological Chemistry
|
November 25, 1992
Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase complex and characterization of an E2 pseudogene
K S Lau, W J Herring, J L Chuang, et al.
The Journal of Biological Chemistry
|
January 25, 1992
Cloning and expression in Escherichia coli of mature E1 beta subunit of bovine mitochondrial branched-chain alpha-keto acid dehydrogenase complex. Mapping of the E1 beta-binding region on E2
R M Wynn, J L Chuang, J R Davie, et al.
Genomics
|
July 1, 1991
Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31
S M Zneimer, K S Lau, R L Eddy, et al.
The Journal of Biological Chemistry
|
June 25, 1988
Isolation and sequencing of a cDNA encoding the decarboxylase (E1)alpha precursor of bovine branched-chain alpha-keto acid dehydrogenase complex. Expression of E1 alpha mRNA and subunit in maple-syrup-urine-disease and 3T3-L1 cells
C W Hu, K S Lau, T A Griffin, et al.
Geobiology
|
September 4, 2017
Carbon isotope fractionation by anoxygenic phototrophic bacteria in euxinic Lake Cadagno
N R Posth, L A Bristow, R P Cox, et al.
Page
of 16