Deficient Ferritin Immunoreactivity in Tissues from Niemann–Pick Type C Patients: Extension of Findings to Fetal Tissues, H and L Ferritin Isoforms, but also One Case of the Rare Niemann–Pick C2 Complementation Group
- 1 July 2000
- journal article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 70 (3) , 196-202
- https://doi.org/10.1006/mgme.2000.3004
Abstract
No abstract availableKeywords
This publication has 38 references indexed in Scilit:
- Niemann-Pick C1 Disease: The I1061T Substitution Is a Frequent Mutant Allele in Patients of Western European Descent and Correlates with a Classic Juvenile PhenotypeAmerican Journal of Human Genetics, 1999
- Niemann–Pick C1 Is a Late Endosome-Resident Protein That Transiently Associates with Lysosomes and the Trans-Golgi NetworkMolecular Genetics and Metabolism, 1999
- The Genomic Organization and Polymorphism Analysis of the Human Niemann-Pick C1 GeneBiochemical and Biophysical Research Communications, 1999
- The Nova Scotia (Type D) Form of Niemann-Pick Disease Is Caused by a G3097→T Transversion in NPC1American Journal of Human Genetics, 1998
- Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol HomeostasisScience, 1997
- Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.Journal of Medical Genetics, 1994
- A mutational analysis of the epitopes of recombinant human H-ferritinBiochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology, 1990
- Immunochemical Characterization of Two Activator Proteins Stimulating Enzymic Sphingomyelin Degradation in vitro Absence of One of them in a Human Gaucher Disease VariantBiological Chemistry Hoppe-Seyler, 1986
- Niemann-Pick disease type CActa Neuropathologica, 1985
- Maturation of the head of bacteriophage T4Journal of Molecular Biology, 1973