Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa

Molecular Vision

Volumn 17, Issue , 2011, Pages 1373-1380

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

^a UNIVERSITY OF THE PUNJAB   (Pakistan)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c UNIVERSITY OF HEALTH SCIENCES   (Pakistan)

^d NATIONAL EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PHOSPHODIESTERASE VI; PHOSPHODIESTERASE VI BETA; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 4P; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; DNA EXTRACTION; EYE EXAMINATION; FAMILY; FEMALE; HUMAN; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; PAKISTAN; PRIORITY JOURNAL; PROTEIN STRUCTURE; RETINITIS PIGMENTOSA; SCORING SYSTEM;

ADULT; ALLELES; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 4; CONSANGUINITY; CYCLIC NUCLEOTIDE PHOSPHODIESTERASES, TYPE 6; EYE PROTEINS; FEMALE; GENE FREQUENCY; GENES, RECESSIVE; HAPLOTYPES; HUMANS; LOD SCORE; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PAKISTAN; PEDIGREE; RETINAL ROD PHOTORECEPTOR CELLS; RETINITIS PIGMENTOSA; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 79959242369     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

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