Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

European Journal of Human Genetics

Volumn 24, Issue 7, 2016, Pages 1071-1079

  Astuti, Galuh D N ^a,b,c   Bertelsen, Mette ^d,e   Preising, Markus N ^f   Ajmal, Muhammad ^g   Lorenz, Birgit ^f   Faradz, Sultana M H ^c   Qamar, Raheel ^g,h   Collin, Rob W J ^a,b   Rosenberg, Thomas ^d,e   Cremers, Frans P M ^a,b,g  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c DIPONEGORO UNIVERSITY   (Indonesia)

^d GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

^e UNIVERSITY OF COPENHAGEN   (Denmark)

^f JUSTUS LIEBIG UNIVERSITY   (Germany)

^g Isra University ^*  (Pakistan)

^h ISRA UNIVERSITY   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; DENMARK; EXON; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; GENOTYPING TECHNIQUE; HETEROZYGOTE; HUMAN; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATOR GENE; NONSENSE MUTATION; NYSTAGMUS; PATHOGENICITY; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RPE65 GENE; ADULT; CHILD; FEMALE; GENETICS; INFANT; MALE; MUTATION RATE; PATHOLOGY; PEDIGREE; RNA SPLICING;

CIS TRANS ISOMERASE; RETINOID ISOMEROHYDROLASE;

ADULT; CHILD; CIS-TRANS-ISOMERASES; DENMARK; FEMALE; HETEROZYGOTE; HUMANS; INFANT; LEBER CONGENITAL AMAUROSIS; MALE; MUTATION RATE; MUTATION, MISSENSE; PEDIGREE; RNA SPLICING;

EID: 84949032467     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.241     Document Type: Article

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