Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency-Reference-Cited by-同舟云学术

Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency

Published:1996-11 Issue:11 Volume:37 Page:2420-2432
ISSN:0022-2275
Container-title:Journal of Lipid Research
language:en
Short-container-title:Journal of Lipid Research

Author:

Buesa C,Pié J,Barceló A,Casals N,Mascaró C,Casale C H,Haro D,Duran M,Smeitink J A,Hegardt F G

Publisher

Elsevier BV

Subject

Cell Biology,Endocrinology,Biochemistry

Reference33 articles.

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3. 3-Hydroxy-3-methylgIutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency;Mitchell;J. Biol. Chem.,1993

4. 3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency: report of five new patients;Gibson;J. Inherit. Metab. Dis.,1988

5. 3-Hydroxy-3-methyl-glutaryl coenzyme A lyase deficiency: a review;Wysocki;J. Inherit. Metab. Dis.,1986

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