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Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China.

Metabolic brain disease - 1 Dec 2015

Jiang Min-yan, Cai Yan-na, Liang Cui-li, Peng Min-zhi, Sheng Hui-ying, Fan Li-ping, Lin Rui-zhu, Jiang Hua, Huang Yonglan, Liu Li

Abstract excerpt

X-linked adrenoleukodystrophy is a common X-linked recessive peroxisomal disorder caused by the mutations in the ABCD1 gene. In this study, we analyzed 19 male patients and 9 female carriers with X-linked adrenoleukodystrophy in South China. By sequencing the ABCD1 gene, 13 different mutations were identified, including 7 novel mutations, and 6 known mutations, and 1 reported polymorphism. Mutation c.1180delG was...

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Source

Identifiers

PMID: 26260157
DOI: 10.1007/s11011-015-9717-6

Genes

ABCD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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