Genotype-phenotype correlation for leber congenital amaurosis in northern Pakistan

Archives of Ophthalmology

Volumn 128, Issue 1, 2010, Pages 107-113

  McKibbin, Martin ^a,b   Ali, Manir ^b   Mohamed, Moin D ^c   Booth, Adam P ^e   Bishop, Fiona ^a   Pal, Bishwanath ^d   Springell, Kelly ^b   Raashid, Yasmin ^f   Jafri, Hussain ^b,f   Inglehearn, Chris F ^b  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

^c ST THOMAS HOSPITAL   (United Kingdom)

^d MOORFIELDS EYE HOSPITAL   (United Kingdom)

^e Royal Eye Infirmary   (United Kingdom)

^f KING EDWARD MEDICAL UNIVERSITY   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

AIPL1 PROTEIN; CRB1 PROTEIN; GENE PRODUCT; LCA5 PROTEIN; MICROSATELLITE DNA; NUCLEAR RECEPTOR COACTIVATOR 2; RPE65 PROTEIN; TULP1 PROTEIN; UNCLASSIFIED DRUG; AIPL1 PROTEIN, HUMAN; CARRIER PROTEIN; CRB1 PROTEIN, HUMAN; EYE PROTEIN; LEBERCILIN PROTEIN, HUMAN; MEMBRANE PROTEIN; MICROTUBULE ASSOCIATED PROTEIN; NERVE PROTEIN; PROTEIN; RPE65 PROTEIN, HUMAN; RPGRIP1 PROTEIN, HUMAN; TULP1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ARTICLE; CATARACT; CHILD; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; DNA DETERMINATION; GENE LOCUS; GENE SEQUENCE; GENETIC LINKAGE; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; KERATOCONUS; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PAKISTAN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL ACUITY; ASIAN; GENETICS; MIDDLE AGED; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; GENOTYPE; HUMANS; LEBER CONGENITAL AMAUROSIS; MEMBRANE PROTEINS; MICROSATELLITE REPEATS; MICROTUBULE-ASSOCIATED PROTEINS; MIDDLE AGED; NERVE TISSUE PROTEINS; PAKISTAN; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; VISUAL ACUITY;

EID: 75349112234     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2010.309     Document Type: Article

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