CLRN1 mutations cause nonsyndromic retinitis pigmentosa

Ophthalmology

Volumn 118, Issue 7, 2011, Pages 1444-1448

  Khan, Muhammad Imran ^a,b   Kersten, Ferry F J ^b,c,d   Azam, Maleeha ^a,b   Collin, Rob W J ^b,c   Hussain, Alamdar ^a   Shah, Syed Tahir A ^a   Keunen, Jan E E ^b   Kremer, Hannie ^b,c,d   Cremers, Frans P M ^a,b,c   Qamar, Raheel ^a,e   Den Hollander, Anneke I ^b,c  

^a Department of Electrical Computer Engineering   (Pakistan)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d RADBOUD UNIVERSITY   (Netherlands)

^e SHIFA COLLEGE OF MEDICINE   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE; MUTANT PROTEIN; PROLINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE STUDY; CELL MEMBRANE; CLINICAL ARTICLE; CLRN1 GENE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DNA SEQUENCE; ELECTRORETINOGRAPHY; ENDOPLASMIC RETICULUM; GENE; GENE SEQUENCE; GENETIC LINKAGE; GENOTYPE; HUMAN; IMAGE ANALYSIS; LINKAGE ANALYSIS; MICROARRAY ANALYSIS; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NIGHT BLINDNESS; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; PAKISTAN; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PURE TONE AUDIOMETRY; RETINA CONE; RETINA ROD; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

ADULT; AUDIOMETRY, PURE-TONE; CONSANGUINITY; DNA; ELECTRORETINOGRAPHY; FUNDUS OCULI; GENES, RECESSIVE; GENETIC LINKAGE; HUMANS; INTRACELLULAR SPACE; LEUCINE; MEMBRANE PROTEINS; MICROARRAY ANALYSIS; MUTATION, MISSENSE; NIGHT BLINDNESS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROLINE; RETINITIS PIGMENTOSA; TISSUE DISTRIBUTION; TRYPTOPHAN; YOUNG ADULT;

EID: 79960015633     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2010.10.047     Document Type: Article

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