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January 1, 1993Human Molecular Genetics

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

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Authors

NCNathalie CartierCentre National de la Recherche Scientifique CSClaude‐Olivier SardeUniversité de Technologie de Compiègne ADAnne‐Marie DouarGenethon (France)

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Implication

Enables molecular diagnosis of ALD; leaves open functional validation and therapeutic translation.

Key Points

Key points are not available for this paper at this time.

Cite This Study

Cartier et al. (1993) studied this question.

synapsesocial.com/papers/6a6ffeea2163a0a01bc438d1 https://doi.org/10.1093/hmg/2.11.1949

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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Genotype and Protein Expression After Bone Marrow Transplantation for Adrenoleukodystrophy2007 · 19 citations
2A Chinese X‐Linked Adrenoleukodystrophy Patient With Atypical Clinical Symptoms Contained an Undefined <scp>ABCD1</scp> Mutation—A Case Report and Literature Review2026
3Adrenoleukodystrophy protein enhances association of very long-chain acyl-coenzyme A synthetase with the peroxisome1999 · 25 citations
4Case report of dysregulation of primary bile acid synthesis in a family with X-linked adrenoleukodystrophy2018 · 5 citations
5X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling2025 · 1 citations