S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It is a heterogeneous disorder caused by mutations in the ATP-binding cassette protein subfamily D1 (ABCD1) gene, encoding the peroxisomal membrane protein ALDP, which is involved in the transmembrane transport of very lo...

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Detalles Bibliográficos
Autores principales: Yan, Fang, Wang, Wenbo, Ying, Hui, Li, Hongyu, Chen, Jing, Xu, Chao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5675651/
https://www.ncbi.nlm.nih.gov/pubmed/29152099
http://dx.doi.org/10.18632/oncotarget.20974

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