Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa

American Journal of Human Genetics

Volumn 87, Issue 3, 2010, Pages 382-391

  Bandah Rozenfeld, Dikla ^a   Mizrahi Meissonnier, Liliana ^a   Farhy, Chen ^b   Obolensky, Alexey ^a   Chowers, Itay ^a   Pe'Er, Jacob ^a   Merin, Saul ^c   Ben Yosef, Tamar ^d   Ashery Padan, Ruth ^b   Banin, Eyal ^a   Sharon, Dror ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c St John Eye Hospital   (Israel)

^d TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; ELECTRORETINOGRAPHY; ETHNIC DIFFERENCE; FAM161A GENE; GENE; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; LOSS OF FUNCTION MUTATION; NONHUMAN; NULL ALLELE; OPEN READING FRAME; OPHTHALMOSCOPY; PHOTORECEPTOR; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL FIELD; AMINO ACID SEQUENCE; ANIMAL; CHEMISTRY; CHROMOSOME MAP; EYE FUNDUS; FAMILY; GENE EXPRESSION REGULATION; GENETICS; HOMOZYGOTE; METABOLISM; MOLECULAR EVOLUTION; MOLECULAR GENETICS; MOUSE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; RECESSIVE GENE;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; EVOLUTION, MOLECULAR; EYE PROTEINS; FAMILY; FUNDUS OCULI; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES, RECESSIVE; HOMOZYGOTE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

MAMMALIA;

EYE PROTEIN; FAM161A PROTEIN, HUMAN; FAM161A PROTEIN, MOUSE;

EID: 77956393918     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.07.022     Document Type: Article

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