A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.

Human mutation

Volumn 29, Issue 5, 2008, Pages 769-

  Gu, Feng ^a   Luo, Weixiao ^a   Li, Xin ^a   Wang, Zhuoqun ^a   Lu, Shuang ^a   Zhang, Meng ^a   Zhao, Baojian ^a   Zhu, Siquan ^a   Feng, Shan ^a   Yan, Yong bin ^a   Huang, Shangzhi ^a   Ma, X ^a  

^a NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CRYAA PROTEIN, HUMAN; CRYSTALLIN;

ARTICLE; CATARACT; CHINA; DOMINANT GENE; FEMALE; GENETIC LINKAGE; GENETICS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MALE; MASS SPECTROMETRY; PEDIGREE; POLYACRYLAMIDE GEL ELECTROPHORESIS;

CATARACT; CHINA; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CRYSTALLINS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; GENES, DOMINANT; HUMANS; LINKAGE (GENETICS); MALE; PEDIGREE; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION;

MLCS; MLOWN;

EID: 49849089879     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.20724     Document Type: Article

References (0)