Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease

Molecular Vision

Volumn 13, Issue , 2007, Pages 1568-1572

  Yzer, Suzanne ^a,b   van den Born, L Ingeborgh ^a   Zonneveld, Marijke N ^b   Lopez, Irma ^b   Ayyagari, Radha ^d   Teye Botchway, Leonard ^e   Mota Vieira, Luisa ^e,f   Cremers, Frans P M ^b,g   Koenekoop, Robert K ^c  

^a ROTTERDAM EYE HOSPITAL   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^d UNIVERSITY OF MICHIGAN   (United States)

^e HOSPITAL DO DIVINO ESPÍRITO SANTO   (Portugal)

^f INSTITUTO GULBENKIAN DE CIÊNCIA   (Portugal)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ADENINE; ATP BINDING CASSETTE TRANSPORTER A4 PROTEIN; CYTOSINE; PROTEIN ABCA4; THYMINE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; FAMILY STUDY; FEMALE; GENE IDENTIFICATION; GENETIC CODE; GENETIC SCREENING; HUMAN; MALE; MICROARRAY ANALYSIS; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NYSTAGMUS; PHENOTYPE; PRIORITY JOURNAL; RETINA CONE; RETINA DYSTROPHY; RETINA ROD; RETINITIS PIGMENTOSA; SIBLING; STARGARDT DISEASE; VISUAL SYSTEM EXAMINATION;

ADENINE; ADULT; ATP-BINDING CASSETTE TRANSPORTERS; CYTOSINE; FEMALE; FUNDUS OCULI; GENES, RECESSIVE; HUMANS; MACULA LUTEA; MALE; MIDDLE AGED; MUTATION, MISSENSE; NYSTAGMUS, PATHOLOGIC; PEDIGREE; PHENOTYPE; RETINAL DEGENERATION; RETINITIS PIGMENTOSA; SEVERITY OF ILLNESS INDEX; THYMINE;

EID: 34548390506     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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