Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients

BioMed Research International

Volumn 2013, Issue , 2013, Pages

  Kamenarova, Kunka ^a   Corton, Marta ^b,c   García Sandoval, Blanca ^d   Fernández San Jose, Patricia ^b,c   Panchev, Valentin ^a   Ávila Fernández, Almudena ^b,c   López Molina, Maria Isabel ^d   Chakarova, Christina ^e   Ayuso, Carmen ^b,c   Bhattacharya, Shomi S ^a,e  

^a CABIMER Andalusian Center for Molecular Biology and Regenerative Medicine CSIC University of Seville UPO   (Spain)

^b 28400 Madrid   (Spain)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

^d HOSPITAL UNIVERSITARIO FUNDACIÓN JIMÉNEZ DÍAZ   (Spain)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GUANYLATE CYCLASE ACTIVATING PROTEIN 1; GUANYLATE CYCLASE ACTIVATOR; UNCLASSIFIED DRUG; GUCA1A PROTEIN, HUMAN;

ADULT; ARTICLE; CHILD; CHROMOSOME 6P; CLINICAL ARTICLE; CLINICAL EVALUATION; COLOR VISION; CONTROLLED STUDY; EXON; FEMALE; GENETIC ASSOCIATION; GENOTYPE; HAPLOINSUFFICIENCY; HAPLOTYPE; HUMAN; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; PATHOGENESIS; PHENOTYPE; RESTRICTION MAPPING; RETINA CONE; RETINA MACULA DEGENERATION; RETINA ROD; RETINAL THICKNESS; SCHOOL CHILD; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; GENETIC LINKAGE; GENETICS; HUMAN GENOME; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; RETINA DEGENERATION; RETINITIS PIGMENTOSA; MACULAR DEGENERATION;

FEMALE; GENETIC LINKAGE; GENOME, HUMAN; GUANYLATE CYCLASE-ACTIVATING PROTEINS; HUMANS; MACULAR DEGENERATION; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL DEGENERATION; RETINAL ROD PHOTORECEPTOR CELLS; RETINITIS PIGMENTOSA;

EID: 84884215437     PISSN: 23146133     EISSN: 23146141     Source Type: Journal    
DOI: 10.1155/2013/517570     Document Type: Article

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