Nonsense mutations in FAM161A cause RP28-associated ecessive retinitis pigmentosa

American Journal of Human Genetics

Volumn 87, Issue 3, 2010, Pages 376-381

  Langmann, Thomas ^a   Di Gioia, Silvio Alessandro ^b   Rau, Isabella ^c   Stöhr, Heidi ^a,h   Maksimovic, Nela S ^c   Corbo, Joseph C ^d   Renner, Agnes B ^e   Zrenner, Eberhart ^f   Kumaramanickavel, Govindasamy ^g   Karlstetter, Marcus ^a   Arsenijevic, Yvan ^b   Weber, Bernhard H F ^a   Gal, Andreas ^c   Rivolta, Carlo ^b  

^a UNIVERSITY OF REGENSBURG   (Germany)

^b UNIVERSITY OF LAUSANNE   (Switzerland)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^f UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^g Sankara Nethralaya ^*  (India)

^h UNIVERSITY OF BELGRADE   (Serbia)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR CRX; UNCLASSIFIED DRUG; EYE PROTEIN; FAM161A PROTEIN, HUMAN; FAM161A PROTEIN, MOUSE; MESSENGER RNA; STOP CODON;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 2; CLINICAL FEATURE; FAM161A GENE; GENE; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RETINITIS PIGMENTOSA; AMINO ACID SEQUENCE; ANIMAL; BINDING SITE; CHEMISTRY; GENE EXPRESSION REGULATION; GENETICS; METABOLISM; MOLECULAR GENETICS; MOUSE; PATHOLOGY; RECESSIVE GENE; REPORTER GENE; RETINA; RETINA DEGENERATION; STOP CODON;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BINDING SITES; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES, RECESSIVE; GENES, REPORTER; GENETIC LOCI; HUMANS; MICE; MOLECULAR SEQUENCE DATA; RETINA; RETINAL DEGENERATION; RETINITIS PIGMENTOSA; RNA, MESSENGER;

ANIMALIA;

EID: 77956393798     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.07.018     Document Type: Article

References (12)

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