Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family

British Journal of Ophthalmology

Volumn 94, Issue 8, 2010, Pages 1094-1099

  Shahzadi, Amber ^a   Riazuddin, S Amer ^a   Ali, Shahbaz ^a   Li, David ^b   Khan, Shaheen N ^a   Husnain, Tayyab ^a   Akram, Javed ^c   Sieving, Paul A ^b   Hejtmancik, J Fielding ^b   Riazuddin, Sheikh ^a,c  

^a UNIVERSITY OF THE PUNJAB   (Pakistan)

^b NATIONAL EYE INSTITUTE   (United States)

^c UNIVERSITY OF HEALTH SCIENCES   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 2Q; CONSANGUINEOUS MARRIAGE; DNA EXTRACTION; ELECTRORETINOGRAM; EXON; EYE EXAMINATION; EYE FUNDUS; GENE LOCUS; GENE MERTK; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HUMAN; LEUKOCYTE; MAJOR CLINICAL STUDY; NONSENSE MUTATION; PAKISTAN; PHENOTYPE; PHOTOGRAPHY; PRIORITY JOURNAL; PROTO ONCOGENE; RETINITIS PIGMENTOSA; SHORT TANDEM REPEAT;

ADULT; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 2; CODON, NONSENSE; ELECTRORETINOGRAPHY; FEMALE; GENOTYPE; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MIDDLE AGED; PEDIGREE; PROTO-ONCOGENE PROTEINS; RECEPTOR PROTEIN-TYROSINE KINASES; RETINITIS PIGMENTOSA; VISUAL ACUITY;

EID: 77955263268     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjo.2009.171892     Document Type: Article

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