Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature

BACKGROUND: X-linked adrenoleukodystrophy (ALD) is an inherited peroxisomal metabolism disorder, resulting from the loss-of-function mutation of ATP-binding cassette protein subfamily D1 (ABCD1) gene. The dysfunction of ALD protein, a peroxisomal ATP-binding cassette transporter, results in the exce...

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Detalles Bibliográficos
Autores principales: Dong, Bingzi, Lv, Wenshan, Xu, Lili, Zhao, Yuhang, Sun, Xiaofang, Wang, Zhongchao, Cheng, Bingfei, Fu, Zhengju, Wang, Yangang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9038410/
https://www.ncbi.nlm.nih.gov/pubmed/35479665
http://dx.doi.org/10.1155/2022/5479781

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9038410/
https://www.ncbi.nlm.nih.gov/pubmed/35479665
http://dx.doi.org/10.1155/2022/5479781

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