Genetic screening of LCA in Belgium: Predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

Human Mutation

Volumn 31, Issue 10, 2010, Pages

  Coppieters, Frauke ^a   Casteels, Ingele ^b   Meire, Françoise ^c   De Jaegere, Sarah ^a   Hooghe, Sally ^a   van Regemorter, Nicole ^d   Van Esch, Hilde ^b   Matulevičiene, Aušra ^e   Nunes, Luis ^f   Meersschaut, Valérie ^a   Walraedt, Sophie ^a,g   Standaert, Lieve ^g   Coucke, Paul ^a   Hoeben, Heidi ^h   Kroes, Hester Y ⁱ   Vande Walle, Johan ^a   de Ravel, Thomy ^b   Leroy, Bart P ^a   De Baere, Elfride ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^d FREE UNIVERSITY OF BRUSSELS   (Belgium)

^e VILNIUS UNIVERSITY   (Lithuania)

^f HOSPITAL DONA ESTEFÂNIA   (Portugal)

^g Revalidation Center Spermalie   (Belgium)

^h MIDDELHEIM HOSPITAL   (Belgium)

ⁱ UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

AHI1; CEP290; Genotype phenotype correlation; LCA; Modifier

Indexed keywords

HISTONE; PROLINE; AHI1 PROTEIN, HUMAN; CEP290 PROTEIN, HUMAN; PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TUMOR ANTIGEN; TUMOR PROTEIN;

AHI1 GENE; ALLELE; ARTICLE; AUTISM; BELGIUM; CEP 290 GENE; CEREBELLO OCULO RENAL SYNDROME; CHILD; COHORT ANALYSIS; EARLY ONSET RETINAL DYSTROPHY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HUMAN; INFANT; JOUBERT SYNDROME; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; MICROCHIP ANALYSIS; MISSENSE MUTATION; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DYSTROPHY; SENIOR LOKEN SYNDROME; ADOLESCENT; ADULT; DNA MICROARRAY; GENE EXPRESSION PROFILING; GENETICS; METHODOLOGY; MIDDLE AGED; PATHOLOGY; RETINA DEGENERATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; ALLELES; ANTIGENS, NEOPLASM; BELGIUM; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION PROFILING; GENETIC TESTING; GENOTYPE; HUMANS; INFANT; LEBER CONGENITAL AMAUROSIS; MIDDLE AGED; NEOPLASM PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; PROTEINS; RETINAL DEGENERATION; RETINAL DYSTROPHIES; YOUNG ADULT;

EID: 78650648893     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21336     Document Type: Article

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