Literature DB >> 9584268

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

H Osaka1, H Sekiguchi, K Inoue, K Ikuta, Y Sakakihara, A Oka, H Onishi, T Miyakawa, K Suzuki, S Kimura, K Kosaka, S Matsuyama.   

Abstract

We identified a novel mutation, L322P, in a patient with X-linked adrenoleukodystrophy (ALD) who underwent bone marrow transplantation (BMT). An identification of the ALD gene mutation enabled us to employ an approach not dependent on the use of radioisotopes for detecting mixed chimerism. This assay could show more than 99.0% of the patient's peripheral white blood cells were replaced by the donor's cells.

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Year:  1998        PMID： 9584268     DOI： 10.1023/a:1005399810735

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  16 in total

1.  Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.

Authors:  V Feigenbaum; G Lombard-Platet; S Guidoux; C O Sarde; J L Mandel; P Aubourg
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  Treatment of adrenoleukodystrophy with bone marrow transplantation.

Authors:  G Malm; O Ringdén; M Anvret; U von Döbeln; L Hagenfeldt; B Isberg; S Knuutila; I Nennesmo; J Winiarski; C Marcus
Journal:  Acta Paediatr       Date:  1997-05       Impact factor: 2.299

3.  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 blotting.

Authors:  J J Sreenan; J D Pettay; A Tbakhi; G Totos; L M Sandhaus; M L Miller; B Bolwell; R R Tubbs
Journal:  Am J Clin Pathol       Date:  1997-03       Impact factor: 2.493

4.  Bone marrow transplant in adrenoleukodystrophy.

Authors:  H W Moser; P J Tutschka; F R Brown; A E Moser; A M Yeager; I Singh; S A Mark; A A Kumar; J M McDonnell; C L White
Journal:  Neurology       Date:  1984-11       Impact factor: 9.910

5.  Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.

Authors:  A Braun; H Ambach; S Kammerer; B Rolinski; S Stöckler; W Rabl; J Gärtner; S Zierz; A A Roscher
Journal:  Am J Hum Genet       Date:  1995-04       Impact factor: 11.025

6.  Mutational analysis of patients with X-linked adrenoleukodystrophy.

Authors:  F Kok; S Neumann; C O Sarde; S Zheng; K H Wu; H M Wei; J Bergin; P A Watkins; S Gould; G Sack
Journal:  Hum Mutat       Date:  1995       Impact factor: 4.878

7.  Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.

Authors:  J Mosser; A M Douar; C O Sarde; P Kioschis; R Feil; H Moser; A M Poustka; J L Mandel; P Aubourg
Journal:  Nature       Date:  1993-02-25       Impact factor: 49.962

8.  Altered expression of ALDP in X-linked adrenoleukodystrophy.

Authors:  P A Watkins; S J Gould; M A Smith; L T Braiterman; H M Wei; F Kok; A B Moser; H W Moser; K D Smith
Journal:  Am J Hum Genet       Date:  1995-08       Impact factor: 11.025

9.  Genomic organization of the adrenoleukodystrophy gene.

Authors:  C O Sarde; J Mosser; P Kioschis; C Kretz; S Vicaire; P Aubourg; A Poustka; J L Mandel
Journal:  Genomics       Date:  1994-07-01       Impact factor: 5.736

10.  X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids.

Authors:  C R Kennedy; J T Allen; A H Fensom; S J Steinberg; R Wilson
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-06       Impact factor: 10.154
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  1 in total

Review 1.  X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.

Authors:  K D Smith; S Kemp; L T Braiterman; J F Lu; H M Wei; M Geraghty; G Stetten; J S Bergin; J Pevsner; P A Watkins
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996
  1 in total

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