A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report

BACKGROUND: X-linked adrenoleukodystrophy (X-ALD; OMIM: 300100) is the most common peroxisomal disease caused by mutations in the ATP-binding cassette, sub-family D member 1 gene or ABCD1 (geneID: 215), the coding gene for the adrenoleukodystrophy protein (ALDP), which is an ATP-binding transport pr...

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Dades bibliogràfiques
Publicat a:BMC Neurol
Autors principals: Karkar, Adnane, Barakat, Abdelhamid, Bakhchane, Amina, Fettah, Houda, Slassi, Ilham, Dorboz, Imen, Boespflug-Tanguy, Odile, Nadifi, Sellama
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2015
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4660798/
https://ncbi.nlm.nih.gov/pubmed/26607867
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-015-0503-1
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