Mutation analysis at codon 838 of the guanylate cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies

Molecular Vision

Volumn 17, Issue , 2011, Pages 1103-1109

  Garcia Hoyos, Maria ^a,b   Auz Alexandre, Carmen Laura ^a,b   Almoguera, Berta ^a,b   Cantalapiedra, Diego ^a,b   Riveiro Alvarez, Rosa ^a,b   Lopez Martinez, Miguel Angel ^a,b   Gimenez, Ascension ^a,b   Blanco Kelly, Fiona ^a,b   Avila Fernandez, Almudena ^a,b   Trujillo Tiebas, Maria Jose ^a,b   Garcia Sandoval, Blanca ^a,b   Ramos, Carmen ^a,b   Ayuso, Carmen ^a,b  

^a 28400 Madrid   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GUANYLATE CYCLASE;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; EXON; FAMILY; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GUCY2D GENE; HAPLOTYPE; HUMAN; PATHOPHYSIOLOGY; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; SEQUENCE ANALYSIS; SPAIN;

CODON; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; GUANYLATE CYCLASE; HUMANS; MACULAR DEGENERATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; RECEPTORS, CELL SURFACE; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL ROD PHOTORECEPTOR CELLS; SPAIN; VISUAL ACUITY;

EID: 79955586118     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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