Molecular Characterization of X-Linked Adrenoleukodystrophy in a Tunisian Family: Identification of a Novel Missense Mutation in the ABCD1 Gene.
Conclusion: Using bioinformatic tools we suggest that this novel variant may have deleterious effects on adrenoleukodystrophy protein structure and function.
PMID: 23651979 [PubMed - as supplied by publisher]
Source: Neuro-Degenerative Diseases - Category: Neurology Authors: Kallabi F, Hadj Salem I, Ben Salah G, Ben Turkia H, Ben Chehida A, Tebib N, Fakhfakh F, Kamoun H Tags: Neurodegener Dis Source Type: research
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