Identification of PAHX, a Refsum disease gene
Open Access
- 1 October 1997
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 17 (2) , 185-189
- https://doi.org/10.1038/ng1097-185
Abstract
No abstract availableKeywords
This publication has 37 references indexed in Scilit:
- DM1 CTG expansions affect insulin receptor isoforms expression in various tissues of transgenic miceBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2007
- Nonalcoholic Fatty Liver, Steatohepatitis, and the Metabolic SyndromeHepatology, 2003
- Phytanoyl–Coenzyme a Hydroxylase Deficiency — The Enzyme Defect in Refsum's DiseaseNew England Journal of Medicine, 1997
- Differential protein import deficiencies in human peroxisome assembly disorders.The Journal of cell biology, 1994
- Protein Import into Peroxisomes and Biogenesis of the OrganelleAnnual Review of Cell and Developmental Biology, 1993
- Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase geneGenomics, 1992
- Heart disease in myotonic dystrophyThe Lancet, 1992
- Basic Local Alignment Search ToolJournal of Molecular Biology, 1990
- Basic local alignment search toolJournal of Molecular Biology, 1990
- A novel genetic system to detect protein–protein interactionsNature, 1989