Identification of a novel LCA6 mutation in an Emirati family

Ophthalmic Genetics

Volumn 34, Issue 4, 2013, Pages 234-237

  Fakhratova, Malika ^a  

^a DUBAI HEALTH AUTHORITY   (United Arab Emirates)

Author keywords

Frameshift; Leber congenital amaurosis; Mutation; RPGRIP1; Sequencing

Indexed keywords

LCA6 PROTEIN; MESSENGER RNA; NUCLEAR PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL ARTICLE; ELECTRORETINOGRAM; EXON; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; LEBER CONGENITAL AMAUROSIS; MALE; MEDICAL HISTORY; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DEGRADATION; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; STOP CODON; UNITED ARAB EMIRATES;

CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 14; CODON, TERMINATOR; CONSANGUINITY; ELECTRORETINOGRAPHY; EXONS; FEMALE; FRAMESHIFT MUTATION; HUMANS; LEBER CONGENITAL AMAUROSIS; MALE; PEDIGREE; POLYMERASE CHAIN REACTION; PROTEINS; SIBLING RELATIONS; UNITED ARAB EMIRATES; VISUAL ACUITY;

EID: 84887871043     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2012.755552     Document Type: Article

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