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Article

Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP.

Human genetics - 1 Dec 2001

Guimarães C P, Lemos M, Menezes I, Coelho T, Sá-Miranda C, Azevedo J E

Abstract excerpt

A variety of mutations have been identified in the X-linked adrenoleukodystrophy (X-ALD) gene, none of which is prevalent. In this work we describe a reverse transcription polymerase chain reaction (RT-PCR)-based strategy specially suited to the molecular characterisation of mutations in index cases. After RT-PCR amplification of the X-ALD transcript a conformation-sensitive gel electrophoresis analysis is...

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Source

Identifiers

PMID: 11810273
DOI: 10.1007/s00439-001-0632-z

Genes

ABCD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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