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ANALYSIS OF THE FAMILY OF A PATIENT WITH X-LINKED ADRENOLEUKODYSTROPHY AND LITERATURE REVIEW

Objective To analyze the mutation site in the ATP-binding cassette subfamily D member 1 gene (ABCD1) in the family of a patient with X-linked adrenoleukodystrophy (X-ALD), and to explore the diagnosis, treatment, and prognosis of X-ALD based on the patient family clinical data and related literature...

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Autor principal: JIANG Jing, JIN Yang, WU Yujiao, LIU Xuewu
Formato: Artigo
Idioma:Chinês
Publicado em: Editorial Office of Journal of Precision Medicine 2023-10-01
coleção:精准医学杂志
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Acesso em linha:https://jpmed.qdu.edu.cn/fileup/2096-529X/PDF/202305018.pdf
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