A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus.
Qian
Xueqing
X
Institute of Nutrition Science, SIBS, Chinese Academy of Sciences, 320 Yueyang Road, Shanghai 200031, PR China.
Shu
Anli
A
Qin
Wei
W
Xing
Qinghe
Q
Gao
Jianjun
J
Yang
Jiandong
J
Feng
Guoyin
G
He
Lin
L
D001483:Base Sequence; D002681:China; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D005141:Eyelid Diseases / Q000235:genetics*; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics*
D017931:DNA Primers; D004268:DNA-Binding Proteins; C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D014157:Transcription Factors