A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea.

Molecular vision

Volumn 15, Issue , 2009, Pages 276-282

  Zhang, L ^a   Fu, Songbin ^a   Ou, Yangshan ^a   Zhao, Tingting ^a   Su, Yunjuan ^a   Liu, Ping ^a  

^a HARBIN MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CRYGC PROTEIN, HUMAN; GAMMA CRYSTALLIN; MICROSATELLITE DNA;

ARTICLE; CATARACT; CHINA; CONGENITAL MALFORMATION; CORNEA; DOMINANT GENE; FAMILY; FEMALE; GENETIC LINKAGE; GENETICS; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON;

CATARACT; CHINA; CODON, NONSENSE; CORNEA; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GAMMA-CRYSTALLINS; GENES, DOMINANT; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MICROSATELLITE REPEATS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 61449152094     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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