Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HPK8_het
Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports.
Ferreira EA et al.
Genetics in Medicine Open, 2024
Molybdenum cofactor deficiency: A natural history.
Spiegel R et al.
Journal of Inherited Metabolic Disease, 2022
Identification of the Germline Mutation Profile in Esophageal Squamous Cell Carcinoma by Whole Exome Sequencing.
Deng J et al.
Frontiers in Genetics, 2019
30833958 (PubMed )
Supplement: Table_1.XLSX › susceptibility_genes
Radical S-Adenosylmethionine Enzymes in Human Health and Disease.
Landgraf BJ et al.
Annual Review of Biochemistry, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.
Reiss J et al.
Human Mutation, 2011
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
Reiss J et al.
Human Mutation, 2003
Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency.
Johnson JL
Prenatal Diagnosis, 2003
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.
Reiss J et al.
Human Genetics, 1998
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