Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts

Molecular Vision

Volumn 17, Issue , 2011, Pages 1940-1945

  Ahmad, Adeel ^a,b   Daud, Shakeela ^c   Kakar, Naseebullah ^a   Nürnberg, Gudrun ^d   Nürnberg, Peter ^d,e   Babar, Masroor Ellahi ^b   Thoenes, Michaela ^f   Kubisch, Christian ^f,g   Ahmad, Jamil ^a   Bolz, Hanno Jörn ^f,h  

^a BALOCHISTAN UNIVERSITY OF INFORMATION TECHNOLOGY   (Pakistan)

^b UVAS   (Pakistan)

^c UNIVERSITY OF THE PUNJAB   (Pakistan)

^d UNIVERSITY OF COLOGNE   (Germany)

^e UNIVERSITY OF COLOGNE   (Germany)

^f UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^g UNIVERSITY OF ULM   (Germany)

^h Center for Human Genetics   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CATARACT; CHILD; CHROMOSOME 6P; CODON; DISEASE PREDISPOSITION; ELECTRORETINOGRAPHY; EXON; FRAMESHIFT MUTATION; GENE; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC VARIABILITY; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INTRON; LCA5 GENE; LEBER CONGENITAL AMAUROSIS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PAKISTAN; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL ACUITY;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CATARACT; CHILD; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXONS; EYE; EYE PROTEINS; FEMALE; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HOMOZYGOTE; HUMANS; LEBER CONGENITAL AMAUROSIS; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NYSTAGMUS, CONGENITAL; PAKISTAN; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79960736200     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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