Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients

International Journal of Audiology

Volumn 52, Issue 7, 2013, Pages 466-471

  Matos, Tiago Daniel ^a   Simões Teixeira, Helena ^a   Caria, Helena ^a,b   Gonçalves, Ana Cláudia ^a   Chora, Joana ^a   Correia, Maria Do Céu ^a   Moura, Carla ^c   Rosa, Helena ^d   Monteiro, Luísa ^e   O'Neill, Assunção ^f,g   Dias, Óscar ^h   Andrea, Mário ^h   Fialho, Graça ^a  

^a UNIVERSITY OF LISBON   (Portugal)

^b INSTITUTO POLITÉCNICO DE SETÚBAL   (Portugal)

^c HOSPITAL DE SÃO JOÃO   (Portugal)

^d HOSPITAL GARCIA DE ORTA   (Portugal)

^e HOSPITAL DONA ESTEFÂNIA   (Portugal)

^f HOSPITAL EGAS MONIZ   (Portugal)

^g UNIVERSIDADE NOVA DE LISBOA   (Portugal)

^h HOSPITAL DE SANTA MARIA   (Portugal)

Author keywords

Connexin 26; Deafness; DFNB1; Genetic; GJB2; GJB6; Hearing loss; Hereditary; Mutation

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN;

ARTICLE; AUDIOMETRY; EXON; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; HUMAN; MUTATION; NUCLEOTIDE SEQUENCE; OTOSCOPY; PERCEPTION DEAFNESS; PHENOTYPE; PORTUGAL; RNA SPLICING; SEVERITY OF ILLNESS INDEX;

AUDIOMETRY; CONNEXINS; DNA MUTATIONAL ANALYSIS; EXONS; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS, SENSORINEURAL; HUMANS; MUTATION; OTOSCOPY; PHENOTYPE; PORTUGAL; RNA SPLICE SITES; SEVERITY OF ILLNESS INDEX;

EID: 84879229960     PISSN: 14992027     EISSN: 17088186     Source Type: Journal    
DOI: 10.3109/14992027.2013.783719     Document Type: Article

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