Objective To carry out prenatal molecular diagnosis on 3 fetuses from different pedigrees with X-linked adrenoleukodystrophy (ALD).

目的对3名来自不同家系的肾上腺脑白质营养不良(ALD)携带者所怀胎儿进行产前分子诊断。

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Objective To identity the ABCD1 gene mutation in a Chinese family with X-linked adrenoleukodystrophy (ALD).

目的鉴定并分析1个新的肾上腺脑白质营养不良家系的基因突变类型和位点。

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Objective To analyze the ABCD1 gene mutations in 5 cases of X-linked adrenoleukodystrophy (X-ALD) patients and 2 cases of their mothers.

目的对5例x -连锁肾上腺脑白质营养不良(X - ALD)患儿及其中2例的母亲进行ABCD 1基因突变分析。

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Lorenzo had Adrenoleukodystrophy (ALD), a genetic disease that progressively destroys the brains of young boys.

BBC: Lorenzo's Oil boy is dead at 30