Mutations in RAB28, encoding a farnesylated small gtpase, are associated with autosomal-recessive cone-rod dystrophy

American Journal of Human Genetics

Volumn 93, Issue 1, 2013, Pages 110-117

  Roosing, Susanne ^a,b   Rohrschneider, Klaus ^c   Beryozkin, Avigail ^d   Sharon, Dror ^d   Weisschuh, Nicole ^e   Staller, Jennifer ^e   Kohl, Susanne ^e   Zelinger, Lina ^d   Peters, Theo A ^a,b,f   Neveling, Kornelia ^a   Strom, Tim M ^g,h   Van Den Born, L Ingeborgh ^k   Hoyng, Carel B ⁱ   Klaver, Caroline C W ^a   Roepman, Ronald ^j   Wissinger, Bernd ^e   Banin, Eyal ^d   Cremers, Frans P M ^a,b   Den Hollander, Anneke I ^a,b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^e UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^f RADBOUD UNIVERSITY   (Netherlands)

^g TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^h INSTITUTE OF EPIDEMIOLOGY   (Germany)

ⁱ ROTTERDAM EYE HOSPITAL   (Netherlands)

^j ERASMUS MEDICAL CENTER   (Netherlands)

^k NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

RAB PROTEIN; RAB28 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; GENE SEQUENCE; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; NONSENSE MUTATION; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN FUNCTION; RETINA CONE ROD DYSTROPHY; RETINA DYSTROPHY;

ADOLESCENT; ADULT; ALTERNATIVE SPLICING; ANIMALS; CHILD; CHROMOSOME MAPPING; CILIA; CODON, NONSENSE; GENE EXPRESSION REGULATION; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; ISOENZYMES; PEDIGREE; PHOTORECEPTOR CONNECTING CILIUM; PROTEIN PRENYLATION; PROTEIN TRANSPORT; RAB GTP-BINDING PROTEINS; RATS; RETINA; RETINAL PIGMENT EPITHELIUM; RETINAL ROD PHOTORECEPTOR CELLS; RETINITIS PIGMENTOSA; VISUAL ACUITY;

RATTUS;

EID: 84880292323     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.05.005     Document Type: Article

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