The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation

Molecular Vision

Volumn 15, Issue , 2009, Pages 1881-1885

  Graw, Jochen ^a   Schmidt, Werner ^b   Minogue, Peter J ^c   Rodriguez, Jessica ^c   Tong, Jun Jie ^d   Klopp, Norman ^a   Illig, Thomas ^a   Ebihara, Lisa ^d   Berthoud, Viviana M ^c   Beyer, Eric C ^c  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b JUSTUS LIEBIG UNIVERSITY   (Germany)

^c UNIVERSITY OF CHICAGO   (United States)

^d ROSALIND FRANKLIN UNIVERSITY OF MEDICINE AND SCIENCE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 50; GAP JUNCTION PROTEIN; GUANINE; ISOLEUCINE; METHIONINE; THYMINE; UNCLASSIFIED DRUG;

ALLELE; ANIMAL EXPERIMENT; ARTICLE; CASE REPORT; CHILD; CONGENITAL CATARACT; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; GJA8; HELA CELL; HUMAN; HUMAN EXPERIMENT; NONHUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RAT; SLIT LAMP;

ADULT; AGED; ALLELES; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CATARACT; CONNEXINS; EYE PROTEINS; FAMILY; FEMALE; GAP JUNCTIONS; HELA CELLS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; TRANSFECTION;

EID: 70349219772     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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