Article
DNA-based diagnostics for adrenoleukodystrophy in a large New Zealand family.
The New Zealand medical journal - 23 Aug 1996
Rowland S A, Dodd A, Roche A L, Manilal S, Kennedy M A, Becroft D M, Tonkin S, Chapman C, Love D R
Abstract excerpt
AIM: To develop a DNA-based diagnostic test for adrenoleukodystrophy (ALD) in a large New Zealand family. METHODS: Mutation screening of the X chromosome-linked ALD gene was undertaken by direct sequencing of PCR amplified products encompassing defined exons of the ALD gene. The identification of a mutation led to the development of a simple restriction enzyme digestion protocol of a PCR amplified product to...
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