Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

Human Molecular Genetics

Volumn 7, Issue 3, 1998, Pages 355-362

  Cremers, Frans P M ^a   Van De Pol, Dorien J R ^a   Van Driel, Marc ^a   Den Hollander, Anneke I ^a   Van Haren, Frank J J ^a   Knoers, Nine V A M ^a   Tijmes, Nel ^b   Bergen, Arthur A B ^b   Rohrschneider, Klaus ^c   Blankenagel, Anita ^c   Pinckers, Alfred J L G ^a   Deutman, August F ^a   Hoyng, Carel B ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^c UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 1P; CONSANGUINITY; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE STRUCTURE; GENETIC LINKAGE; HETEROZYGOSITY; HUMAN; HUMAN CELL; INTRON; MALE; MISSENSE MUTATION; OPHTHALMOLOGY; POINT MUTATION; PRIORITY JOURNAL; RETINA CONE; RETINA DYSTROPHY; RETINA MACULA DEGENERATION; RETINA ROD; RETINITIS PIGMENTOSA; RNA SPLICING; STARGARDT DISEASE;

ALLELES; ALTERNATIVE SPLICING; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; EXONS; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENES, RECESSIVE; HETEROZYGOTE DETECTION; HUMANS; INTRONS; LOD SCORE; MACULAR DEGENERATION; MALE; PEDIGREE; POINT MUTATION; RETINITIS PIGMENTOSA;

EID: 6844259885     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.3.355     Document Type: Article

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