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Hum Mol Genet. 1993 Nov;2(11):1949-51.

Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.

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INSERM U342, Hôpital Saint Vincent de Paul, Paris, France.


A candidate gene for X-linked adrenoleukodystrophy (ALD) has been identified via positional cloning strategies. We now report messenger RNA expression in fibroblasts from 6 unrelated ALD patients. Four patients lacked the normal 4.2 kb transcript, three of them having deletions of the ALD gene. A fifth patient with a deletion of 1.6 kb had a smaller 4.0 kb transcript. The last patient had a normal sized transcript and a missense mutation at base 1258 leading to Glu-291-Lys substitution in a region of the candidate gene protein which is conserved in the 70 kD peroxisomal membrane protein. These results provide further evidence that this candidate gene is indeed the ALD gene.

[Indexed for MEDLINE]

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