Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

Molecular Vision

Volumn 16, Issue , 2010, Pages 495-500

  Aller, Elena ^a,b   Jaijo, Teresa ^a,b   van Wijk, Erwin ^c,d,e   Ebermann, Inga ^f   Kersten, Ferry ^c,d,e   García García, Gema ^a   Voesenek, Krysta ^c   Aparisi, María José ^a   Hoefsloot, Lies ^c   Cremers, Cor ^c,e   Díaz Llopis, Manuel ^a,g   Pennings, Ronald ^c,e   Bolz, Hanno J ^f   Kremer, Hannie ^c,d,e   Millán, José M ^a,b  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

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

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e RADBOUD UNIVERSITY   (Netherlands)

^f UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^g UNIVERSITY OF VALENCIA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN DFNB31; SCAFFOLD PROTEIN; UNCLASSIFIED DRUG; WHIRLIN; DFNB31 PROTEIN, HUMAN; MEMBRANE PROTEIN;

ALLELE; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE CLASSIFICATION; DNA POLYMORPHISM; ETHNICITY; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PREDICTION; PREVALENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE; USHER SYNDROME; GENETICS; INTRON; MISSENSE MUTATION; MUTATION;

GENETIC VARIATION; HUMANS; INTRONS; MEMBRANE PROTEINS; MUTATION; MUTATION, MISSENSE; USHER SYNDROMES;

EID: 77952299721     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

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