Novel compound heterozygous NMNAT1 variants associated with leber congenital amaurosis

Molecular Vision

Volumn 20, Issue , 2014, Pages 253-759

  Siemiatkowska, Anna M ^a   van den Born, L Ingeborgh ^b   van Genderen, Maria M ^c   Bertelsen, Mette ^d,e   Zobor, Ditta ^f   Rohrschneider, Klaus ^g   van Huet, Ramon A ^a   Nurohmah, Siska ^a,h   Klevering, B Jeroen ^a   Kohl, Susanne ^f   Faradz, Sultana M H ^h   Rosenberg, Thomas ^d,e   den Hollander, Anneke I ^a,i   Collin, Rob W J ^a,i   Cremers, Frans P M ^a,i  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ROTTERDAM EYE HOSPITAL   (Netherlands)

^c Bartimeus Institute for the Visually Impaired   (Netherlands)

^d GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

^e UNIVERSITY OF COPENHAGEN   (Denmark)

^f UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^g UNIVERSITY OF HEIDELBERG   (Germany)

^h DIPONEGORO UNIVERSITY   (Indonesia)

ⁱ RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE; NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 1; UNCLASSIFIED DRUG; NMNAT1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; DISEASE ASSOCIATION; DNA SEQUENCE; ELECTRORETINOGRAPHY; ETHNICITY; EXON; EYE DISEASE; EYE REFRACTION; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; HUMAN; INHERITANCE; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; NMNAT1 GENE; PHENOTYPE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RETINA CONE ROD DYSTROPHY; RETINA MACULA DEGENERATION; RETINITIS PIGMENTOSA; SCHOOL CHILD; VISUAL ACUITY; YOUNG ADULT; ENZYMOLOGY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; MUTATION;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; LEBER CONGENITAL AMAUROSIS; MALE; MIDDLE AGED; MUTATION; NICOTINAMIDE-NUCLEOTIDE ADENYLYLTRANSFERASE; YOUNG ADULT;

EID: 84901911603     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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