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Article

Accurate DNA-Based Diagnostic and Carrier Testing for X-Linked Adrenoleukodystrophy

1 Feb 1999

Abstract excerpt

X-linked adrenoleukodystrophy is a serious and often fatal disorder, affecting the white matter of the nervous system, the adrenal cortex, and the testis. The gene mutated in X-ALD encodes a peroxisomal membrane protein, ALDP. The presence of very long chain fatty acids in plasma is highly diagnostic for affected males and carrier females, but exclusion of carrier status biochemically is unreliable. Molecular...

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Identifiers

PMID: 10068516
DOI: 10.1006/mgme.1998.2779

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