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。
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。
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。
The molecular diagnosis for X linked adrenoleukodystrophy (ALD) using mutational analysis at genomic DNA level is important.
在基因组DNA水平，应用基因突变分析的方法对肾上腺脑白质营养不良进行分子诊断十分重要。
And the diagnoses of several famous hospitals all showed that both of these two boys suffered the disease named Adrenoleukodystrophy(ALD/AMN) which is a rare cranial nerve disease in the world.
经过各大医院医生的综合仔细诊断显示，二个儿子同时患上了世界上罕见的脑神经疾病——肾上腺脑白质退化症。
And the diagnoses of several famous hospitals all showed that both of these two boys suffered the disease named Adrenoleukodystrophy(ALD/AMN) which is a rare cranial nerve disease in the world.
经过各大医院医生的综合仔细诊断显示，二个儿子同时患上了世界上罕见的脑神经疾病——肾上腺脑白质退化症。
应用推荐