Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Garcia Garcia, Gema ^a   Aparisi, Maria J ^a   Jaijo, Teresa ^a,b   Rodrigo, Regina ^a   Leon, Ana M ^b   Avila Fernandez, Almudena ^b,c   Blanco Kelly, Fiona ^c   Bernal, Sara ^b,d   Navarro, Rafael ^e   Diaz Llopis, Manuel ^f   Baiget, Montserrat ^b,d   Ayuso, Carmen ^b,c   Millan, Jose M ^a,b,f   Aller, Elena ^a,b  

^a INSTITUTO DE INVESTIGACIÓN SANITARIA DEL HOSPITAL CLÍNICO SAN CARLOS IDISSC   (Spain)

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

^c Fundacián Jiménez Díaz   (Spain)

^d HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^e Ocular Microsurgery Institute   (Spain)

^f HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

Mutations; Sequence Variants; USH2A; Usher Syndrome

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOINFORMATICS; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DNA SEQUENCE; EXON; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; IN VITRO STUDY; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PHENOTYPE; RNA SPLICING; SEGREGATION ANALYSIS; SPAIN; USH2A GENE; USHER SYNDROME; USHER SYNDROME TYPE II; ADOLESCENT; ADULT; CLASSIFICATION; FEMALE; GENETICS; GENOTYPE; MALE; MIDDLE AGED; MISSENSE MUTATION; MUTATION;

SCLEROPROTEIN; USH2A PROTEIN, HUMAN;

ADOLESCENT; ADULT; DNA MUTATIONAL ANALYSIS; EXONS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PHENOTYPE; SPAIN; USHER SYNDROMES; YOUNG ADULT;

EID: 80054064728     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-65     Document Type: Article

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