Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene-Reference-Cited by-同舟云学术

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene

Published:2017-05-25 Issue:6 Volume:173 Page:1601-1606
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Huijmans Jan G. M.¹,Schot Rachel¹,de Klerk Johannis B. C.²,Williams Monique²,de Coo René F. M.³,Duran Marinus⁴,Verheijen Frans W.¹,van Slegtenhorst Marjon¹,Mancini Grazia M. S.¹^ORCID

Affiliation:

1. Department of Clinical Genetics; Erasmus MC; Rotterdam The Netherlands

2. Department of Pediatrics; Erasmus MC Sophia; Rotterdam The Netherlands

3. Department of Child Neurology; Erasmus MC Sophia; Rotterdam The Netherlands

4. Department of Metabolic diseases; Amsterdam Medical Center; Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference11 articles.

1. Molybdenum cofactor deficiency;Atwal;Molecular Genetics and Metabolism,2016

2. Dual role of the molybdenum cofactor biosynthesis protein MOCS3 in tRNA thiolation and molybdenum cofactor biosynthesis in humans;Chowdhury;Journal of Biological Chemistry,2012

3. Combined deficiency of xanthine oxidase and sulphite oxidase: A defect of molybdenum metabolism or transport;Duran;Journal of Inherited Metabolic Disease,1978

4. Molybdenum cofactor deficiency-phenotypic variability in a family with a late-onset variant;Hughes;Developmental Medicine & Child Neurology,1998

5. Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12;Jackson;Thorax,2016

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