A novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation

scientific article published on 01 April 1998

A novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation is …
instance of (P31):
scholarly articleQ13442814

External links are
P6179Dimensions Publication ID1046209489
P356DOI10.1023/A:1005399810735
P698PubMed publication ID9584268

P2093author name stringK Suzuki
K Inoue
K Ikuta
S Kimura
T Miyakawa
K Kosaka
H Sekiguchi
S Matsuyama
A Oka
H Onishi
H Osaka
Y Sakakihara
P2860cites workPutative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transportersQ24321939
Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy geneQ24628731
Altered expression of ALDP in X-linked adrenoleukodystrophyQ24671055
Spectrum of mutations in the gene encoding the adrenoleukodystrophy proteinQ24672329
Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypesQ24672808
Genomic organization of the adrenoleukodystrophy geneQ28240695
Mutational analysis of patients with X-linked adrenoleukodystrophyQ28290738
X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acidsQ33732673
Adrenoleukodystrophy: phenotypic variability and implications for therapyQ35848823
Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophyQ35882708
Quantitative determination of bone marrow transplant engraftment using fluorescent polymerase chain reaction primers for human identity markersQ40989962
Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathyQ48066768
Treatment of adrenoleukodystrophy with bone marrow transplantationQ48714011
Bone marrow transplant in adrenoleukodystrophyQ64380535
X-linked adrenoleukodystrophyQ71969913
The use of amplified variable number of tandem repeats (VNTR) in the detection of chimerism following bone marrow transplantation. A comparison with restriction fragment length polymorphism (RFLP) by Southern blottingQ73114439
P433issue2
P304page(s)162-166
P577publication date1998-04-01
P1433published inJournal of Inherited Metabolic DiseaseQ6295359
P1476titleA novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation
P478volume21