Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration

American Journal of Human Genetics

Volumn 82, Issue 1, 2008, Pages 174-180

  Hejtmancik, J Fielding ^a   Jiao, Xiaodong ^a   Li, Anren ^a   Sergeev, Yuri V ^a   Ding, Xiaoyan ^a,b   Sharma, Anil K ^c   Chan, Chi Chao ^a   Medina, Igor ^d   Edwards, Albert O ^c  

^a NATIONAL EYE INSTITUTE   (United States)

^b SUN YAT SEN UNIVERSITY   (China)

^c Mayo Clinic   (United States)

^d AIX MARSEILLE UNIVERSITY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL; INWARDLY RECTIFYING POTASSIUM CHANNEL; KIR7.1 CHANNEL; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CELL LINE; CELL MEMBRANE; CHO K1 CELL; GENE; GENE LOCUS; GENE MUTATION; GENE OVEREXPRESSION; GENETIC VARIABILITY; HUMAN; KCNJ13 GENE; NONHUMAN; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA; SNOWFLAKE VITREORETINAL DEGENERATION; VITREORETINAL DEGENERATION; VITREOUS BODY; WILD TYPE; AMINO ACID SEQUENCE; ANIMAL; CHEMISTRY; CHO CELL; CRICETULUS; DOMINANT GENE; EYE DISEASE; GENETIC TRANSFECTION; GENETICS; HAMSTER; METABOLISM; MISSENSE MUTATION; MOLECULAR GENETICS; RETINA DEGENERATION; SEQUENCE ALIGNMENT;

AMINO ACID SEQUENCE; ANIMALS; CHO CELLS; CRICETINAE; CRICETULUS; EYE DISEASES, HEREDITARY; GENES, DOMINANT; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RETINAL DEGENERATION; SEQUENCE ALIGNMENT; TRANSFECTION; VITREOUS BODY;

EID: 38749087988     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2007.08.002     Document Type: Article

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