SCOPUS 정보 검색 플랫폼

Volumn 59, Issue 5, 1996, Pages 1006-1011

Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: Impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the amish

(4) Biery, Barbara J a,d Stein, Donna E b Morton, D Holmes c Goodman, Stephen I a,b

a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE (United States)

b Children's Hospital Colorado (United States)

c CLINIC FOR SPECIAL CHILDREN (United States)

d JOHNS HOPKINS UNIVERSITY (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTARYL COENZYME A DEHYDROGENASE;

ACIDEMIA; AMINO ACID METABOLISM; ARTICLE; ENZYME ACTIVITY; GENE MUTATION; GENE STRUCTURE; HIGH RISK POPULATION; HUMAN; HUMAN CELL; PRIORITY JOURNAL;

AMINO ACID METABOLISM, INBORN ERRORS; CELLS, CULTURED; ESCHERICHIA COLI; FIBROBLASTS; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PENNSYLVANIA; POINT MUTATION; POLYMORPHISM, GENETIC; SEQUENCE ANALYSIS, DNA;

ESCHERICHIA COLI;

EID: 0029908698 PISSN: 00029297 EISSN: None Source Type: Journal
DOI: None Document Type: Article

Times cited : (97)

References (5)

1
- 0000389537
- Organic acidemias due to defects in lysine oxidation: 2-ketoadipic acidemia and glutaric acidemia
- Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
- Goodman SI, Frerman FE (1995) Organic acidemias due to defects in lysine oxidation: 2-ketoadipic acidemia and glutaric acidemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th ed. McGraw-Hill, New York, pp 1451-1460
- (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th Ed. , pp. 1451-1460
- Goodman, S.I.¹ Frerman, F.E.²

2
- 0029084073
- Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli
- Goodman SI, Kratz LE, DiGiulio KA, Biery BJ, Goodman KE, Izaya G, Frerman FE (1995) Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. Hum Mol Genet 4:1493-1498
- (1995) Hum Mol Genet , vol.4 , pp. 1493-1498
- Goodman, S.I.¹ Kratz, L.E.² DiGiulio, K.A.³ Biery, B.J.⁴ Goodman, K.E.⁵ Izaya, G.⁶ Frerman, F.E.⁷

3
- 0028239839
- Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridization and somatic cell hybrid analysis
- Greenberg CR, Duncan AMV, Gregory CA, Singal R, Goodman SI (1994) Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridization and somatic cell hybrid analysis. Genomics 21:289-290
- (1994) Genomics , vol.21 , pp. 289-290
- Greenberg, C.R.¹ Duncan, A.M.V.² Gregory, C.A.³ Singal, R.⁴ Goodman, S.I.⁵

4
- 0028953615
- A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I
- Greenberg CR, Reimer D, Singal R, Triggs-Raine B, Chudley AE, Billing LA, Philipps S, et al (1995) A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I. Hum Mol Genet 4:493-495
- (1995) Hum Mol Genet , vol.4 , pp. 493-495
- Greenberg, C.R.¹ Reimer, D.² Singal, R.³ Triggs-Raine, B.⁴ Chudley, A.E.⁵ Billing, L.A.⁶ Philipps, S.⁷

5
- 0001823786
- Recombinant PCR
- Innis MA, Gelfand DH, Sninsky JJ, White TJ (eds) Academic Press, New York
- Higuchi R (1990) Recombinant PCR. In: Innis MA, Gelfand DH, Sninsky JJ, White TJ (eds) PCR protocols: a guide to methods and applications. Academic Press, New York, pp 177-183
- (1990) PCR Protocols: A Guide to Methods and Applications , pp. 177-183
- Higuchi, R.¹

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