A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease

Molecular Vision

Volumn 18, Issue , 2012, Pages 1253-1259

  Waheed, Nadia K ^a,b   Qavi, Ahmed H ^a   Malik, Sarah N ^a   Maria, Maleeha ^c   Riaz, Moeen ^c   Cremers, Frans P M ^c,d,e   Azam, Maleeha ^c   Qamar, Raheel ^a,c  

^a SHIFA COLLEGE OF MEDICINE   (Pakistan)

^b SHIFA INTERNATIONAL HOSPITAL   (Pakistan)

^c Department of Electrical Computer Engineering   (Pakistan)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CASE REPORT; CEREBRAL SINUS THROMBOSIS; CHILD; CONGENITAL STATIONARY NIGHT BLINDNESS; DISEASE ASSOCIATION; FAMILY; FEMALE; GENE; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERHOMOCYSTEINEMIA; METHYLENETETRAHYDROFOLATE REDUCTASE GENE; MIZUO NAKAMURA PHENOMENON; MUTATIONAL ANALYSIS; NIGHT BLINDNESS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OGUCHI DISEASE; PAKISTAN; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RHODOPSIN KINASE GENE; S ANTIGEN GENE; SCHOOL CHILD; SIBLING; SYSTEMIC LUPUS ERYTHEMATOSUS; THROMBOCYTOPENIA;

ADOLESCENT; ALLELES; ARRESTIN; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; G-PROTEIN-COUPLED RECEPTOR KINASE 1; HOMOZYGOTE; HUMANS; HYPERHOMOCYSTEINEMIA; LUPUS ERYTHEMATOSUS, SYSTEMIC; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); NIGHT BLINDNESS; PAKISTAN; PEDIGREE; SIBLINGS; SINUS THROMBOSIS, INTRACRANIAL;

EID: 84863330469     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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