Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans
- 1 June 2017
- journal article
- Published by Elsevier in The American Journal of Human Genetics
- Vol. 100 (6) , 926-939
Abstract
No abstract availableKeywords
Funding Information
- Deutsche Forschungsgemeinschaft (FI1767/3-1)
This publication has 63 references indexed in Scilit:
- Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in HumansPLOS Genetics, 2013
- Pathogenesis-Based Therapy Reverses Cutaneous Abnormalities in an Inherited Disorder of Distal Cholesterol MetabolismJournal of Investigative Dermatology, 2011
- A framework for variation discovery and genotyping using next-generation DNA sequencing dataNature Genetics, 2011
- Mouse cytosolic sulfotransferase SULT2B1b interacts with cytoskeletal proteins via a proline/serine‐rich C‐terminusThe FEBS Journal, 2010
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing dataNucleic Acids Research, 2010
- A method and server for predicting damaging missense mutationsNature Methods, 2010
- Growth Retardation, Impaired Triacylglycerol Catabolism, Hepatic Steatosis, and Lethal Skin Barrier Defect in Mice Lacking Comparative Gene Identification-58 (CGI-58)Journal of Biological Chemistry, 2010
- Noisy splicing, more than expression regulation, explains why some exons are subject to nonsense-mediated mRNA decayBMC Biology, 2009
- Human Splicing Finder: an online bioinformatics tool to predict splicing signalsNucleic Acids Research, 2009
- Premature Terminal Differentiation and a Reduction in Specific Proteases Associated with Loss of ABCA12 in Harlequin IchthyosisThe American Journal of Pathology, 2009