胱氨酸病纯合子和杂合子个体白细胞中胱氨酸增加。
Increased cystine in leukocytes from individuals homozygous and heterozygous for cystinosis.
作者信息
Schneider J A, Bradley K, Seegmiller J E
出版信息
Science. 1967 Sep 15;157(3794):1321-2. doi: 10.1126/science.157.3794.1321.
PMID:6038997
Abstract
In patients with cystinosis, the concentration of free cystine in leukocytes was 80 times greater than normal, and six times the normal content for their parents. This is the first demonstration of an abnormality in heterozygotes for this rare inherited disease of childhood. Three-quarters of the cystine was recovered in the granular fraction of cystinotic leukocytes.
摘要
在胱氨酸贮积症患者中，白细胞中游离胱氨酸的浓度比正常情况高80倍，是其父母正常含量的6倍。这是首次证明这种罕见的儿童遗传性疾病杂合子存在异常。四分之三的胱氨酸在胱氨酸贮积症白细胞的颗粒部分中被回收。
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