亨特综合征的临床与遗传学研究。1. 异质性。
A clinical and genetic study of Hunter's syndrome. 1. Heterogeneity.
作者信息
Young I D, Harper P S, Archer I M, Newcombe R G
出版信息
J Med Genet. 1982 Dec;19(6):401-7. doi: 10.1136/jmg.19.6.401.
Abstract
Analysis of the natural history in 88 patients with definite or probable Hunter's syndrome indicates that the disease shows both clinical and genetic heterogeneity. Intrafamilial variation was noted in only one of 17 families. Linkage analysis suggests that the Hunter and Xg loci are unlikely to be closely linked.
摘要
对88例确诊或疑似亨特综合征患者的自然病史分析表明，该疾病表现出临床和遗传异质性。在17个家族中，仅在1个家族中观察到家族内变异。连锁分析表明，亨特基因座和Xg基因座不太可能紧密连锁。
Zotero 插件