Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

American Journal of Human Genetics

Volumn 82, Issue 1, 2008, Pages 19-31

  Burgess, Rosemary ^a,b   Millar, Ian D ^b   Leroy, Bart P ^c   Urquhart, Jill E ^a,b   Fearon, Ian M ^b   De Baere, Elfrida ^c   Brown, Peter D ^b   Robson, Anthony G ^d,e   Wright, Genevieve A ^d   Kestelyn, Philippe ^c   Holder, Graham E ^d,e   Webster, Andrew R ^d,e   Manson, Forbes D C ^a,b,f   Black, Graeme C M ^a,b,f  

^a ST MARY S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d MOORFIELDS EYE HOSPITAL   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f MANCHESTER ROYAL EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BESTROPHIN 1 PROTEIN; CHLORIDE ION; DNA; MEMBRANE PROTEIN; BEST1 PROTEIN, HUMAN; CHLORIDE CHANNEL; EYE PROTEIN; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE BESTROPHINOPATHY; BEST1 GENE; CELL STRAIN HEK293; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ELECTROOCULOGRAM; ELECTRORETINOGRAPHY; FAMILY; FEMALE; GENE; GENE SEGREGATION; GENE SEQUENCE; GENETIC TRANSFECTION; GENETIC VARIABILITY; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HUMAN CELL; ION CURRENT; MALE; MISSENSE MUTATION; PATCH CLAMP; PRIORITY JOURNAL; RETINOPATHY; VISUAL IMPAIRMENT; WHOLE CELL; WILD TYPE; ADOLESCENT; AMINO ACID SEQUENCE; CELL LINE; CHEMISTRY; GENETICS; MOLECULAR GENETICS; PRESCHOOL CHILD; RECESSIVE GENE; RETINA DISEASE; STOP CODON;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CELL LINE; CHILD; CHILD, PRESCHOOL; CHLORIDE CHANNELS; CODON, NONSENSE; EYE PROTEINS; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; RETINAL DISEASES; TRANSFECTION;

EID: 38749133039     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2007.08.004     Document Type: Article

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