Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene.

doi:10.1111/j.1399-0004.1998.tb02600.x

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Article

Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene.

Clinical genetics - 1 Jun 1998

Holzinger A, Maier E, Stöckler-Ipsiroglu S, Braun A, Roscher A A

Abstract excerpt

We have detected a novel mutation in the adrenoleukodystrophy (ALD) gene in skin fibroblasts in primary culture derived from a patient suffering from the adrenocortical insufficiency-only-phenotype of ALD. This nonsense mutation (C2400T/Q672X) is the only mutation reported to date affecting exon...

Topics

ATP Binding Cassette Transporter, Subfamily D, Member 1
ATP-Binding Cassette Transporters
Adrenoleukodystrophy
Adult
Cells, Cultured
Exons
Fibroblasts
Humans
Male
Membrane Proteins
Mutation

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