The congenital "ant-egg" cataract phenotype is caused by a missence mutation in connexin46

Molecular Vision

Volumn 12, Issue , 2006, Pages 1033-1039

  Hansen, Lars ^a   Yao, Wenliang ^b   Eiberg, Hans ^a   Funding, Mikkel ^c   Riise, Ruth ^d   Kjaer, Klaus Wilbrandt ^a   Hejtmancik, James Fielding ^b   Rosenberg, Thomas ^e  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b NATIONAL EYE INSTITUTE   (United States)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

^d OSLO UNIVERSITY HOSPITAL   (Norway)

^e JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 46; GENOMIC DNA;

ARTICLE; CLINICAL ARTICLE; CONGENITAL CATARACT; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE LOCUS; GENE SEQUENCE; GENETIC LINKAGE; GENETIC MARKER; GENOME ANALYSIS; HAPLOTYPE; HUMAN; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION MAPPING;

AMINO ACID SEQUENCE; BASE SEQUENCE; CATARACT; CONNEXINS; FEMALE; HAPLOTYPES; HUMANS; LEUCINE; LOD SCORE; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PROTEIN SORTING SIGNALS; PROTEIN STRUCTURE, TERTIARY; SERINE;

EID: 33748281736     PISSN: 10900535     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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