Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease
- 1 October 1994
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 94 (4) , 441
- https://doi.org/10.1007/bf00201609
Abstract
No abstract availableKeywords
This publication has 5 references indexed in Scilit:
- Chronic Granulomatous Disease: The Solving of a Clinical Riddle at the Molecular LevelClinical Immunology and Immunopathology, 1993
- A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous diseaseEuropean Journal of Pediatrics, 1993
- Genetic Heterogeneity in Patients with X-Linked Recessive Chronic Granulomatous DiseasePediatric Research, 1992
- A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.Journal of Clinical Investigation, 1989
- Cloning the gene for an inherited human disorder—chronic granulomatous disease—on the basis of its chromosomal locationNature, 1986