A compound heterozygote case of isolated sulfite oxidase deficiency

A compound heterozygote case of isolated sulfite oxidase deficiency

We report an isolated sulfite oxidase deficiency in the first child boy of a non-consanguineous Caucasian family. He's a compound heterozygote for the sulfite oxidase gene, presenting low cystine, undetectable homocysteine and normal uric acid blood concentrations and undetectable sulfite oxida...

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Bibliographic Details
Main Authors: Daniel Brumaru, Eric Guerin, Anne-Claire Voegeli, Didier Eyer, Michel Maitre
Format: Article
Language:English
Published: Elsevier 2017-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Compound heterozygote
Point mutation
Missense mutation
Transition
Transversion
Fibroblasts
Sulfite oxidase activity
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426917300101

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http://www.sciencedirect.com/science/article/pii/S2214426917300101

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