Analysis of PAX6 gene in a Chinese aniridia family.
- Author:
Hai-yan ZHU
1
;
Ling-qian WU
;
Qian PAN
;
De-sheng LIANG
;
Zhi-gao LONG
;
He-ping DAI
;
Kun XIA
;
Jia-hui XIA
Author Information
1. National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, Changsha 410078, China.
- Publication Type:Case Reports
- MeSH:
Aniridia;
genetics;
Base Sequence;
China;
Codon, Nonsense;
genetics;
DNA Mutational Analysis;
methods;
Eye Proteins;
genetics;
Female;
Frameshift Mutation;
genetics;
Homeodomain Proteins;
genetics;
Humans;
Infant;
PAX6 Transcription Factor;
Paired Box Transcription Factors;
genetics;
Pedigree;
Repressor Proteins;
genetics
- From:
Chinese Medical Journal
2006;119(16):1400-1402
- CountryChina
- Language:English