Phenotype-Genotype Relationships in Complementation Group 3 of the Peroxisome-Biogenesis Disorders
Open Access
- 1 November 1998
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 63 (5) , 1294-1306
- https://doi.org/10.1086/302103
Abstract
No abstract availableKeywords
This publication has 43 references indexed in Scilit:
- d-3-Hydroxyacyl-CoA Dehydratase/d-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency: A Newly Identified Peroxisomal DisorderAmerican Journal of Human Genetics, 1997
- Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase geneNature Genetics, 1997
- Identification of PAHX, a Refsum disease geneNature Genetics, 1997
- Nucleotide sequence of human alkyl-dihydroxyacetonephosphate synthase cDNA reveals the presence of a peroxisomal targeting signal 2Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1997
- The sorting sequence of the peroxisomal integral membrane protein PMP47 is contained within a short hydrophilic loop.The Journal of cell biology, 1996
- Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groupsThe Journal of Pediatrics, 1995
- Internal initiation of translationCurrent Opinion in Cell Biology, 1993
- Protein Import into Peroxisomes and Biogenesis of the OrganelleAnnual Review of Cell Biology, 1993
- Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase geneGenomics, 1992
- Antibodies directed against the peroxisomal targeting signal of firefly luciferase recognize multiple mammalian peroxisomal proteins.The Journal of cell biology, 1990