Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1

Cerebral adrenoleukodystrophy (CALD) is a fatal genetic disease characterized by rapid, devastating neurological decline, with a narrow curative treatment window in the early stage. Non-canonical splice-site (NCSS) variants can easily be missed during genomic DNA analyses, and only a few of them in...

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Detalles Bibliográficos
Autores principales: Zheng, Feixia, Lin, Zhongdong, Hu, Ying, Shi, Xulai, Zhao, Qianlei, Lin, Zhenlang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9863105/
https://www.ncbi.nlm.nih.gov/pubmed/36675402
http://dx.doi.org/10.3390/jcm12020473

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9863105/
https://www.ncbi.nlm.nih.gov/pubmed/36675402
http://dx.doi.org/10.3390/jcm12020473

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