High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population

Molecular Vision

Volumn 13, Issue , 2007, Pages 1031-1037

  Gamundi, María José ^a   Hernan, Imma ^a   Muntanyola, Marta ^a   Trujillo, María José ^b   García Sandoval, Blanca ^b   Ayuso, Carmen ^b   Baiget, Montserrat ^b   Carballo, Miguel ^a  

^a HOSPITAL DE TERRASSA   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; GENE PRODUCT; PERIPHERIN; RETINAL DEGENERATION SLOW PROTEIN; RNA; THREONINE; TRYPTOPHAN; UNCLASSIFIED DRUG;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; COHORT ANALYSIS; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; DISEASE CLASSIFICATION; FAMILIAL DISEASE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PEDIGREE ANALYSIS; PHENOTYPIC VARIATION; PHYLOGENETIC TREE; PRIORITY JOURNAL; PROTEIN STRUCTURE; RETINA MACULA DEGENERATION; RETINITIS PIGMENTOSA; RNA SPLICING; SENSORY SYSTEM ELECTROPHYSIOLOGY; SPAIN; VISUAL SYSTEM EXAMINATION;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARGININE; CODON, NONSENSE; CYTOSINE; FUNDUS OCULI; GENE FREQUENCY; GENES, DOMINANT; HUMANS; INTERMEDIATE FILAMENT PROTEINS; INTRONS; MACULAR DEGENERATION; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; PROTEIN SPLICING; SPAIN; THYMINE; TRYPTOPHAN;

EID: 34347388837     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (31)

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