Associated Papers
HSD10 disease in a female: A case report and review of literature.
Upadia J et al.
Jimd Reports, 2021
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A
HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.
Waters PJ et al.
Molecular Genetics & Genomic Medicine, 2019
31654490 (PubMed )
Supplement: MGG3-7-e1000-s002.docx
Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.
Richardson A et al.
Jimd Reports, 2017
Roles of 17β-hydroxysteroid dehydrogenase type 10 in neurodegenerative disorders.
Yang SY et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.
Zschocke J
Journal of Inherited Metabolic Disease, 2012
SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site.
Doktor TK et al.
Human Mutation, 2011
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.
García-Villoria J et al.
European Journal of Human Genetics : Ejhg, 2010
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.
Lenski C et al.
American Journal of Human Genetics, 2007
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