Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

American Journal of Human Genetics

Volumn 85, Issue 5, 2009, Pages 581-592

  Davidson, Alice E ^a   Millar, Ian D ^a   Urquhart, Jill E ^b   Burgess Mullan, Rosemary ^a   Shweikh, Yusrah ^a   Parry, Neil ^c   O'Sullivan, James ^b   Maher, Geoffrey J ^a   McKibbin, Martin ^d   Downes, Susan M ^e   Lotery, Andrew J ^f   Jacobson, Samuel G ^g   Brown, Peter D ^a   Black, Graeme C M ^a,c   Manson, Forbes D C ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

^c MANCHESTER ROYAL EYE HOSPITAL   (United Kingdom)

^d ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^e OXFORD EYE HOSPITAL   (United Kingdom)

^f UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^g UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BESTROPHIN 1; CHLORIDE CHANNEL; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BASOLATERAL MEMBRANE; CELLULAR DISTRIBUTION; CHLORIDE CURRENT; CHROMOSOME 11Q; CHROMOSOME MAP; CYTOPLASM; EMBRYO; FEMALE; GENE SEQUENCE; GENETIC MODEL; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MUTANT; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETINITIS PIGMENTOSA; WILD TYPE;

AMINO ACID SEQUENCE; CELL LINE; CHLORIDE CHANNELS; CHROMOSOMES, HUMAN, PAIR 11; CONSERVED SEQUENCE; EXONS; EYE PROTEINS; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; KIDNEY; LINKAGE (GENETICS); LOD SCORE; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NUCLEAR FAMILY; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN ISOFORMS; RETINAL PIGMENT EPITHELIUM; RETINITIS PIGMENTOSA; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 71849105587     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.09.015     Document Type: Article

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