Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa

Molecular Vision

Volumn 19, Issue , 2013, Pages 2187-2195

  Méndez Vidal, Cristina ^a,b   González del Pozo, María ^a,b   Vela Boza, Alicia ^c   Santoyo López, Javier ^c   López Domingo, Francisco J ^c   Vázquez Marouschek, Carmen ^a   Dopazo, Joaquin ^c,d   Borrego, Salud ^a,b   Antiñolo, Guillermo ^a,b,c  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c Medical Genome Project   (Spain)

^d CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; ASYMPTOMATIC DISEASE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONTROLLED STUDY; DNA SEQUENCE; ETHNIC GROUP; EXOME; EXON; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN FUNCTION; RETINITIS PIGMENTOSA; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SPANISH; USH2A GENE;

ADULT; BASE SEQUENCE; CHROMOSOME SEGREGATION; DNA MUTATIONAL ANALYSIS; EXOME; EXONS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; RETINITIS PIGMENTOSA; SIBLINGS; SPAIN; USHER SYNDROMES;

EID: 84887266834     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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