Homozygous Null Mutations in the ABCA4 Gene in Two Families With Autosomal Recessive Retinal Dystrophy

American Journal of Ophthalmology

Volumn 141, Issue 5, 2006, Pages 906-913

  Singh, Hardeep Pal ^a   Jalali, Subhadra ^a   Hejtmancik, J Fielding ^b   Kannabiran, Chitra ^a  

^a L V PRASAD EYE INSTITUTE   (India)

^b NATIONAL EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A4; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ATROPHY; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA FLANKING REGION; ELECTRORETINOGRAPHY; EXON; EYE FUNDUS; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; HOMOZYGOSITY; HUMAN; INDIA; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NULL ALLELE; OPHTHALMOLOGY; PHENOTYPE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA CONE; RETINA DYSTROPHY; RETINA ROD; VISUAL ACUITY; VISUAL FIELD; VISUAL IMPAIRMENT;

ADULT; ATP-BINDING CASSETTE TRANSPORTERS; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; GENOTYPE; HOMOZYGOTE; HUMANS; MALE; MICROSATELLITE REPEATS; PEDIGREE; PHOTORECEPTORS, VERTEBRATE; RETINAL DEGENERATION; VISION DISORDERS; VISUAL ACUITY; VISUAL FIELDS;

EID: 33646172013     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2005.12.009     Document Type: Article

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