前中期
Cockayne综合征
染色体
遗传学
长臂
生物
医学
基因
DNA修复
中期
核苷酸切除修复
作者
Jean‐Pierre Fryns,Jan A. L. Bulcke,Paul Verdu,Herwig Carton,A Kleczkowska,Herman Van den Berghe
出处
期刊:American journal of medical genetics
[Wiley]
日期:1991-09-01
卷期号:40 (3): 343-344
被引量:17
标识
DOI:10.1002/ajmg.1320400320
摘要
Abstract We present the history and data on a 24‐year‐old man with clinical and neurological symptoms similar to the findings in patients with late‐onset Cockayne syndrome. Prometaphase chromosome studies documented an interstitial 10q211 deletion in all cells. This finding may indicate that the gene for late Cockayne syndrome is at 10q211.
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