Genetic analysis and prenatal diagnosis of 76 Chinese families with X‐linked adrenoleukodystrophy

BACKGROUND: Variants in the ATP binding cassette protein subfamily D member 1 (ABCD1) gene are known to cause X‐linked adrenoleukodystrophy (X‐ALD). This study focused on the characteristics of ABCD1 variants in Chinese X‐ALD families and elucidated the value of genetic approaches for X‐ALD. METHODS...

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Detalles Bibliográficos
Autores principales: Liu, Siwen, Li, Lin, Wu, Hairong, Pei, Pei, Zheng, Xuefei, Pan, Hong, Bao, Xinhua, Qi, Yu, Ma, Yinan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8801145/
https://www.ncbi.nlm.nih.gov/pubmed/34826210
http://dx.doi.org/10.1002/mgg3.1844

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