Spectrum and frequency of SLC26A4 mutations among czech patients with early hearing loss with and without enlarged vestibular aqueduct (EVA)

Annals of Human Genetics

Volumn 74, Issue 4, 2010, Pages 299-307

  Pourová, Radka ^a   Janoušek, Petr ^a   Jurovčík, Michal ^a   Dvořáková, Marcela ^a   Malíková, Marcela ^a   Rašková, Dagmar ^b   Bendová, Olga ^a   Leonardi, Emanuela ^c   Murgia, Alessandra ^c   Kabelka, Zdenek ^a   Astl, Jaromír ^a   Seeman, Pavel ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b Gennet Prague The Clinic at St Kliment   (Czech Republic)

^c UNIVERSITY OF PADOVA   (Italy)

Author keywords

Deafness; EVA; Hearing loss; MLPA; Pendred; SLC26A4

Indexed keywords

CONNEXIN 26; PENDRIN;

ALLELE; ARTICLE; CZECH REPUBLIC; ENLARGED VESTIBULAR AQUEDUCT; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; INNER EAR MALFORMATION; MAJOR CLINICAL STUDY; MONDINI DYSPLASIA; MUTATION RATE; MUTATIONAL ANALYSIS; NONSYNDROMIC HEARING LOSS; NUCLEAR MAGNETIC RESONANCE IMAGING; PENDRED SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SIBLING;

CZECH REPUBLIC; HEARING LOSS, SENSORINEURAL; HUMANS; MEMBRANE TRANSPORT PROTEINS; MUTATION; PHENOTYPE; PREVALENCE; SYNDROME; VESTIBULAR AQUEDUCT;

EID: 77954780222     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2010.00581.x     Document Type: Article

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