Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria-Reference-Cited by-同舟云学术

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

Published:2013-09 Issue:1-2 Volume:110 Page:73-77
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Tort Frederic,García-Silva María Teresa,Ferrer-Cortès Xènia,Navarro-Sastre Aleix,Garcia-Villoria Judith,Coll Maria Josep,Vidal Enrique,Jiménez-Almazán Jorge,Dopazo Joaquín,Briones Paz,Elpeleg Orly,Ribes Antonia

Funder

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)

Instituto de Salud Carlos III (Ministerio de Ciencia e Innovación, Spain)

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference23 articles.

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2. Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria;Narisawa;J. Clin. Invest.,1986

3. Inherited 3-methylglutaconic aciduria in two brothers—another defect of leucine metabolism;Duran;J. Pediatr.,1982

4. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes;Barth;J. Neurol. Sci.,1983

5. A novel X-linked gene, G4.5. is responsible for Barth syndrome;Bione;Nat. Genet.,1996

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