A NOVEL MUTATION FOUND IN AN ADRENOLEUKODYSTROPHY PATIENT WHO UNDERWENT BONE-MARROW TRANSPLANTATION

Authors
OSAKA H SEKIGUCHI H INOUE K IKUTA K SAKAKIHARA Y OKA A ONISHI H MIYAKAWA T SUZUKI K KIMURA S KOSAKA K MATSUYAMA S
Citation
H. Osaka et al., A NOVEL MUTATION FOUND IN AN ADRENOLEUKODYSTROPHY PATIENT WHO UNDERWENT BONE-MARROW TRANSPLANTATION, Journal of inherited metabolic disease, 21(2), 1998, pp. 162-166
Citations number
17
Categorie Soggetti
Endocrynology & Metabolism","Genetics & Heredity
Journal title
Journal of inherited metabolic disease → ACNP
ISSN journal
01418955
Volume
21
Issue
2
Year of publication
1998
Pages
162 - 166
Database
ISI
SICI code
0141-8955(1998)21:2<162:ANMFIA>2.0.ZU;2-D
Abstract
We identified a novel mutation, L322P, in a patient with X-linked adre noleukodystrophy (ALD) who underwent bone marrow transplantation (BMT) . An identification of the ALD gene mutation enabled us to employ an a pproach not dependent on the use of radioisotopes for detecting mixed chimerism. This assay could show more than 99.0% of the patient's peri pheral white blood cells were replaced by the donor's cells.