A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa

American Journal of Human Genetics

Volumn 87, Issue 3, 2010, Pages 400-409

  Li, Lin ^a,c   Nakaya, Naoki ^b   Chavali, Venkata R M ^d   Ma, Zhiwei ^a   Jiao, Xiaodong ^a   Sieving, Paul A ^a   Riazuddin, Sheikh ^e,f   Tomarev, Stanislav I ^b   Ayyagari, Radha ^d   Riazuddin, S Amer ^e,g   Hejtmancik, J Fielding ^a  

^a NATIONAL EYE INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c SUN YAT SEN UNIVERSITY   (China)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF THE PUNJAB   (Pakistan)

^f ALLAMA IQBAL MEDICAL COLLEGE   (Pakistan)

^g JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

OPSIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR ARR3; TRANSCRIPTION FACTOR IRBP; TRANSCRIPTION FACTOR PAX6; TRANSCRIPTION FACTOR SP4; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; ZINC FINGER PROTEIN 513; CHROMATIN; EYE PROTEIN; GENETIC MARKER; MESSENGER RNA; MUTANT PROTEIN; PROTEIN BINDING; ZEBRAFISH PROTEIN; ZNF513 PROTEIN, HUMAN; ZNF513 PROTEIN, MOUSE; ZNF513 PROTEIN, ZEBRAFISH;

ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 2P; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; HOMOZYGOSITY; MISSENSE MUTATION; NONHUMAN; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN BINDING; RETINITIS PIGMENTOSA; ZEBRA FISH; AMINO ACID SEQUENCE; ANIMAL; CHEMISTRY; CHLOROCEBUS AETHIOPS; CHROMATIN; CHROMOSOME MAP; COS 1 CELL LINE; EMBRYOLOGY; FEMALE; GENE EXPRESSION REGULATION; GENETIC LINKAGE; GENETIC MARKER; GENETICS; HUMAN; MALE; METABOLISM; MOLECULAR GENETICS; MOUSE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHOTORECEPTOR CELL; RECESSIVE GENE; RETINA CONE; RETINA ROD;

AMINO ACID SEQUENCE; ANIMALS; CERCOPITHECUS AETHIOPS; CHROMATIN; CHROMOSOME MAPPING; COS CELLS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES, RECESSIVE; GENETIC MARKERS; HUMANS; LOD SCORE; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; PEDIGREE; PHOTORECEPTOR CELLS, VERTEBRATE; PROTEIN BINDING; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL ROD PHOTORECEPTOR CELLS; RETINITIS PIGMENTOSA; RNA, MESSENGER; TRANSCRIPTION FACTORS; ZEBRAFISH; ZEBRAFISH PROTEINS;

DANIO RERIO;

EID: 77956395486     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.08.003     Document Type: Article

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