目的 对1个有3例女性杂合子患者的X-连锁肾上腺-脑白质营养不良(X-linked adrenoleukodystrophy,X-ALD)家系进行基因突变分析.方法......

X-linked adrenoleukodystrophy(X-ALD),an inborn error of peroxisomalβ-oxidation,is caused by defects in the ATP Binding ......