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The genotype and phenotype studies of 40 Chinese patients with X-linked adrenoleukodystrophy (X-ALD).

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences - 18 Feb 2006

Ping Li-li, Bao Xin-hua, Wang Ai-hua, Pan Hong, Wu Ye, Xiong Hui, Zhang Yue-hua, Jiang Yu-wu, Qin Jiong, Wu Xi-ru

Abstract excerpt

OBJECTIVE: To elucidate the phenotype and the genotype-phenotype correlations in Chinese patients with X-linked adrenoleukodystrophy (X-ALD). METHODS: Clinical features of 40 Chinese patients with X-ALD were studied and mutation spectrums were investigated by polymerase chain reaction (PCR) and sequencing. RESULTS: Among these patients, four were siblings from two unrelated families, the others were unrelated....

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PMID: 16415970

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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