A Nonsense Mutation in the Exon 2 of the 3-Hydroxy- 3-methylglutaryl Coenzyme A Lyase (HL) Gene Producing Three Mature mRNAs Is the Main Cause of 3-Hydroxy-3-methylglutaric Aciduria in European Mediterranean Patients-Reference-Cited by-同舟云学术

A Nonsense Mutation in the Exon 2 of the 3-Hydroxy- 3-methylglutaryl Coenzyme A Lyase (HL) Gene Producing Three Mature mRNAs Is the Main Cause of 3-Hydroxy-3-methylglutaric Aciduria in European Mediterranean Patients

Published:1998-01 Issue:1 Volume:349 Page:129-137
ISSN:0003-9861
Container-title:Archives of Biochemistry and Biophysics
language:en
Short-container-title:Archives of Biochemistry and Biophysics

Author:

Casale César H.,Casals Núria,Pié Juan,Zapater Núria,Pérez-Cerdá Celia,Merinero Begoña,Martı́nez-Pardo Mercedes,Garcı́a-Peñas Juan José,Garcı́a-Gonzalez José M.,Lama Rosa,Poll-The Bwee-Tien,Smeitink Jan A.M.,Wanders Ronald J.A.,Ugarte Magdalena,Hegardt Fausto G.

Publisher

Elsevier BV

Subject

Molecular Biology,Biochemistry,Biophysics

Reference33 articles.

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3. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: A review

4. The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria

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