Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation

Molecular Vision

Volumn 10, Issue , 2004, Pages 884-889

  Zhang, Qingjiong ^a   Zulfiqar, Fareeha ^b   Riazuddin, S Amer ^a,b   Xiao, Xueshan ^a   Ahmad, Zahoor ^b   Riazuddin, Sheikh ^b   Hejtmancik, J Fielding ^a  

^a NATIONAL EYE INSTITUTE   (United States)

^b UNIVERSITY OF THE PUNJAB   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC GMP PHOSPHODIESTERASE; PROTEIN CNGA1; UNCLASSIFIED DRUG; CYCLIC NUCLEOTIDE GATED ION CHANNELS; CYCLIC-NUCLEOTIDE GATED ION CHANNELS; EYE PROTEIN; ION CHANNEL; PRIMER DNA;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 4P; CLINICAL ARTICLE; CONTROLLED STUDY; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; MICROSATELLITE MARKER; NUCLEOTIDE SEQUENCE; PAKISTAN; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SCORING SYSTEM; SEQUENCE ANALYSIS; CHEMISTRY; CHROMOSOME MAP; CONSANGUINITY; DNA SEQUENCE; ETHNOLOGY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETICS; GENOTYPE; MALE; PATHOLOGY; PEDIGREE; RECESSIVE GENE;

BASE SEQUENCE; CHROMOSOME MAPPING; CONSANGUINITY; DNA PRIMERS; EYE PROTEINS; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; GENOTYPE; HUMANS; ION CHANNELS; LINKAGE (GENETICS); MALE; PAKISTAN; PEDIGREE; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 16644374600     PISSN: 10900535     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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