Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patients

Human Mutation

Volumn 6, Issue 3, 1995, Pages 263-267

  Koike, Ryoko ^a   Onodera, Osamu ^a   Tabe, Hiroyuki ^a   Kaneko, Kiyotoshi ^b   Miyatake, Tadashi ^b   Iwasaki, Shinichi ^c   Nakano, Misa ^d,e   Shizuma, Nami ^e   Ikeguchi, Kunihiko ^e   Nishizawa, Masatoyo ^e   Mosser, Jean ^f   Sarde, Claude‐Olivier ^f   Tsuji, Shoji ^a  

^a NIIGATA UNIVERSITY   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c SAITAMA MEDICAL UNIVERSITY   (Japan)

^d OSAKA UNIVERSITY   (Japan)

^e JICHI MEDICAL UNIVERSITY   (Japan)

^f INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

LIGNOCERIC ACID; VERY LONG CHAIN FATTY ACID;

ADRENOLEUKODYSTROPHY; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DEMYELINATION; GENE DELETION; GENE LOCUS; GENETIC VARIABILITY; HUMAN; HUMAN CELL; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME RECESSIVE DISORDER;

ADRENOLEUKODYSTROPHY; BASE SEQUENCE; CHROMOSOME MAPPING; GENE DELETION; HUMAN; JAPAN; MOLECULAR SEQUENCE DATA;

EID: 0029095531     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380060314     Document Type: Article

References (18)

1. Linkage of adrenoleukodystrophy to a polymorphic DNA probe
2. Frequent alterations of visual pigment genes in adrenoleukodystrophy
3. Abnormal messenger RNA expression and a missense mutation in patients with X‐linked adrenoleukodystrophy
4. Adrenoleukodystrophy and adrenomyeloneuropathy associated with partial adrenal insufficiency in three generation of a kindred
5. Adrenoleukodystrophy: A complex chromosomal rearrangement in the Xq28 red/green‐color pigment gene region indicates two possible gene localizations
6. Adrenomyeloneuropathy: A probable variant of adrenoleukodystrophy. I. Clinical and endocrinological aspects
7. Lignoceroyl CoASH ligase: enzyme defect in fatty acid β‐oxidation System in X‐linked childhood adrenoleukodystrophy
8. The 70‐kDa peroxisomal membrane protein is a member of the Mdr (P‐glycoprotein)‐related ATP‐binding protein superfamily
9. Adrenolcukomyeloneuropathy presenting as spinocerebellar degcneration
10. Adrenoleukodystrophy: Evidence for X linkage, inactivation, and selcction favoring the mutant allelc in heterogenous cells
11. Putative X‐linked adrenoleukodystrophy gene shares ubexpected homology with ABC transporters
12. Adrenoleukodystrophy (Xlinked)
13. The adrenolcukomyeloneuropathy complex: Expression in four generations
14. Kluver‐Busy syndrome caused by adrenoleukodystrophy
15. Genomic organizarion of the adrenoleukodystrophy gene
16. Adrenoleukodystrophy: Impaired Oxidation of very long chain fatty acids in white blood cells, cultuted skin fibroblasts, and amniocytes
17. Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy
18. Isolation of the human chromosomal band Xq28 within somatic cell hybrids by fragile X site breakage