LINKAGE ANALYSIS IN BLEPHAROPHIMOSIS-PTOSIS SYNDROME CONFIRMS LOCALIZATION TO 3Q21-24

被引:25
作者
HARRAR, HS [1 ]
JEFFERY, S [1 ]
PATTON, MA [1 ]
机构
[1] ST GEORGE HOSP,SCH MED,MED GENET UNIT,LONDON SW17 0RE,ENGLAND
关键词
D O I
10.1136/jmg.32.10.774
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Blepharophimosis-ptosis is an autosomal dominant disorder in which previous chromosome rearrangements have suggested a putative gene location on the long arm of chromosome 3. This paper confirms the location at 3q21-24 with linkage studies in two large families. A lod score of 3.2 was found with D3S1237.
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页码:774 / 777
页数:4
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