Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes

Author:

Cameron Jessie M.,Janer Alexandre,Levandovskiy Valeriy,MacKay Nevena,Rouault Tracey A.,Tong Wing-Hang,Ogilvie Isla,Shoubridge Eric A.,Robinson Brian H.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference33 articles.

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2. Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency;Lissens;Hum. Mutat.,2000

3. Human defects of the pyruvate dehydrogenase complex;Kerr,1996

4. Pyruvate dehydrogenase phosphatase deficiency: Identification of the first mutation in two brothers and restoration of activity by protein complementation;Maj;J. Clin. Endocrinol. Metab.,2005

5. Lactic acidemia (Disorders of pyruvate carboxylase, pyruvate dehydrogenase);Robinson,2001

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