Mutations in IMPG2, Encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa

American Journal of Human Genetics

Volumn 87, Issue 2, 2010, Pages 199-208

  Bandah Rozenfeld, Dikla ^a   Collin, Rob W J ^b,c   Banin, Eyal ^a   Ingeborgh Van Den Born, L ^d   Coene, Karlien L M ^b,c   Siemiatkowska, Anna M ^b,c   Zelinger, Lina ^a   Khan, Muhammad I ^b,e   Lefeber, Dirk J ^b   Erdinest, Inbar ^a   Testa, Francesco ^f   Simonelli, Francesca ^f   Voesenek, Krysta ^b   Blokland, Ellen A W ^b   Strom, Tim M ^g   Klaver, Caroline C W ^h   Qamar, Raheel ^e,i   Banfi, Sandro ^j   Cremers, Frans P M ^b,c   Sharon, Dror ^a   Den Hollander, Anneke I ^b,c   more..

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ROTTERDAM EYE HOSPITAL   (Netherlands)

^e Department of Electrical Computer Engineering   (Pakistan)

^f SECOND UNIVERSITY OF NAPLES   (Italy)

^g INSTITUTE OF EPIDEMIOLOGY   (Germany)

^h ERASMUS MEDICAL CENTER   (Netherlands)

ⁱ SHIFA COLLEGE OF MEDICINE   (Pakistan)

^j TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN 2; PHENYLALANINE; PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 3; ENDOPLASMIC RETICULUM; ETHNICITY; EXON; GENE DELETION; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; GENETIC CODE; GENETIC TRANSFECTION; HUMAN; JEW; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; PHOTORECEPTOR CELL; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN LOCALIZATION; RETINA MACULOPATHY; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; VISUAL ACUITY; VISUAL FIELD DEFECT;

ADULT; AGED; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CERCOPITHECUS AETHIOPS; CHROMOSOME MAPPING; CHROMOSOME SEGREGATION; COS CELLS; DNA MUTATIONAL ANALYSIS; FEMALE; FUNDUS OCULI; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; PEDIGREE; PROTEOGLYCANS; RETINITIS PIGMENTOSA; SUBCELLULAR FRACTIONS;

EID: 77955581331     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.07.004     Document Type: Article

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