New mutation in the 3'-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family

Human Mutation

Volumn 8, Issue 1, 1996, Pages 93-94

  Reig, Carlos ^a   Alvarez, Ana Isabel ^b   Tejada, Isabel ^b   Molina, Manuel ^b   Aróstegui, Esteban ^b   Martín, Rosa ^b   Antich, Jaume ^a   Carballo, Miguel ^a  

^a University of Barcelona   (Spain)

^b HOSPITAL DE BASURTO   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

RHODOPSIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; FEMALE; GENE AMPLIFICATION; GENE MUTATION; HUMAN; INTRON; MALE; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

FEMALE; GENES, DOMINANT; HUMANS; INTRONS; MALE; MUTATION; PEDIGREE; RETINITIS PIGMENTOSA; RHODOPSIN; RNA SPLICING; SPAIN;

EID: 0030014637     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:1<93::AID-HUMU17>3.0.CO;2-M     Document Type: Article

References (12)

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