13三体综合征中酯酶D及其他基因标志物的表达
Expression of esterase D and other gene markers in trisomy 13.
作者信息
Sparkes R S, Sparkes M C, Crist M
出版信息
Hum Genet. 1979 Nov;52(2):179-83. doi: 10.1007/BF00271571.
PMID:511174
Abstract
A gene dosage effect was observed for esterase D in a patient with trisomy 13. Isoelectric focusing of hemoglobin from the same patient showed three unidentified bands. A gene dosage effect for several other enzymes was not observed in two other patients with trisomy 13.
摘要
在一名13三体综合征患者中观察到酯酶D的基因剂量效应。对同一名患者的血红蛋白进行等电聚焦显示出三条未鉴定的条带。在另外两名13三体综合征患者中未观察到其他几种酶的基因剂量效应。
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