Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3

Japanese Journal of Ophthalmology

Volumn 55, Issue 6, 2011, Pages 676-680

  Saqib, Muhammad Arif Nadeem ^a   Awan, Bilal Malik ^a   Sarfraz, Mehwish ^b   Khan, Muhammad Nasim ^b   Rashid, Sajid ^a   Ansar, Muhammad ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

^b UNIVERSITY OF AZAD JAMMU AND KASHMIR   (Pakistan)

Author keywords

Achromatopsia; Autosomal recessive; Homozygosity; Pakistani

Indexed keywords

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

ARTICLE; COLOR BLINDNESS; CONFORMATIONAL TRANSITION; CONTROLLED STUDY; CYCLIC NUCLEOTIDE GATED CHANNEL ALPHA 3 GENE; CYCLIC NUCLEOTIDE GATED CHANNEL BETA 3 GENE; DISEASE SEVERITY; DNA MODIFICATION; EXON; EYE EXAMINATION; GENE; GENE LOCATION; GENE SEGREGATION; GENETIC IDENTIFICATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; LINKAGE ANALYSIS; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PAKISTAN; PRIORITY JOURNAL; PROTEIN MOTIF; SEQUENCE ANALYSIS;

AGED; AMINO ACID MOTIFS; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; COLOR VISION DEFECTS; CONSANGUINITY; CYCLIC NUCLEOTIDE-GATED CATION CHANNELS; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PAKISTAN; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 82955246142     PISSN: 00215155     EISSN: 16132246     Source Type: Journal    
DOI: 10.1007/s10384-011-0070-y     Document Type: Article

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