A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness

Audiology and Neuro-Otology

Volumn 9, Issue 1, 2004, Pages 47-50

  Frei, Klemens ^a,d   Lucas, Trevor ^a   Ramsebner, Reinhard ^a   Schöfer, Christian ^a   Baumgartner, Wolf Dieter ^a   Weipoltshammer, Klara ^a   Erginel Unaltuna, Nihan ^c   Wachtler, Franz J ^a   Kirschhofer, Karin ^a,b  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b KRANKENHAUS DER BARMHERZIGEN BRÜDER   (Austria)

^c ISTANBUL UNIVERSITY   (Turkey)

^d AKH 8J ^*  (Austria)

Author keywords

439 G A mutation; Connexin 26; Sensorineural deafness

Indexed keywords

CONNEXIN 26; POTASSIUM CHANNEL;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONGENITAL DEAFNESS; CONTROLLED STUDY; DETERIORATION; FAMILIAL DISEASE; FEMALE; GENE IDENTIFICATION; GENE MUTATION; HUMAN; INFANT; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CASE-CONTROL STUDIES; CHILD; CONNEXINS; FEMALE; GENES, RECESSIVE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0348010573     PISSN: 14203030     EISSN: None     Source Type: Journal    
DOI: 10.1159/000074186     Document Type: Article

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