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Article

[Mutational analysis of three Chinese pedigrees with adrenoleukodystrophy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2004

Huang Liang-hu, Zeng Jian, Yang Bo-sheng, Huang Hui-juan, Wu Yu-shui, Lan Feng-hua

Abstract excerpt

OBJECTIVE: To identify the mutational genotype of three Chinese families with X-linked adrenoleukodystrophy (X-ALD: MIM#300100). METHODS: Total RNA was extracted from the peripheral blood leukocytes of patients 1, 2 and the mother of patient 3, using RNA blood Mini kit (QIAGEN). After reverse transcription, cDNA was amplified in four overlapping segments. The PCR products were purified and directly sequenced. To...

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PMID: 15192815

Genes

ABCD1

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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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