杂合子优势
肾上腺脑白质营养不良
病理
医学
生物
内科学
遗传学
基因型
基因
过氧化物酶体
受体
作者
James M. Powers,Hugo W. Moser,A. B. Moser,Ma Ck,Elias Sb,R. A. Norum
出处
期刊:Archives of Pathology & Laboratory Medicine
[Archives of Pathology and Laboratory Medicine]
日期:1987-02-01
卷期号:111 (2): 151-3
被引量:10
摘要
Two women, heterozygous for X-linked adrenoleukodystrophy, contained striated adrenocortical cells without inflammation and central nervous system demyelinative lesions. Only one was symptomatic neurologically; neither exhibited hypoadrenalism. These findings further document the variability of adrenoleukodystrophy heterozygotes and provide evidence that the major pathologic differences between hemizygote and heterozygote are quantitative in nature.
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