Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia

Molecular Vision

Volumn 16, Issue , 2010, Pages 774-781

  Azam, Maleeha ^a,b   Collin, Rob W J ^b,c   Shah, Syed Tahir Abbas ^a   Shah, Aftab Ali ^a   Khan, Muhammad Imran ^a,b   Hussain, Alamdar ^a   Sadeque, Ahmed ^a   Strom, Tim M ^d   Thiadens, Alberta A H J ^b,e   Roosing, Susanne ^b,c   den Hollander, Anneke I ^b,c   Cremers, Frans P M ^a,b,c   Qamar, Raheel ^a,f  

^a COMSATS Institute of Information Technology ^*  (Pakistan)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d INSTITUTE OF EPIDEMIOLOGY   (Germany)

^e ERASMUS MEDICAL CENTER   (Netherlands)

^f SHIFA COLLEGE OF MEDICINE   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC NUCLEOTIDE GATED CHANNEL; CYCLIC NUCLEOTIDE GATED CHANNEL ALPHA 3; CYCLIC NUCLEOTIDE GATED CHANNEL BETA 3; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; COLOR BLINDNESS; COLOR VISION TEST; CONTROLLED STUDY; DNA ISOLATION; ELECTRORETINOGRAPHY; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; PAKISTAN; PHOTORECEPTOR; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL ACUITY;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; COLOR; COLOR VISION DEFECTS; CYCLIC NUCLEOTIDE-GATED CATION CHANNELS; ELECTRORETINOGRAPHY; EYEGLASSES; FRAMESHIFT MUTATION; FUNDUS OCULI; GENE EXPRESSION; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PAKISTAN; PHOTOPHOBIA; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL ROD PHOTORECEPTOR CELLS; VISION, OCULAR;

EID: 77955591104     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (25)

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