Connexin 26 mutations in cases of sensorineural deafness in eastern Austria

European Journal of Human Genetics

Volumn 10, Issue 7, 2002, Pages 427-432

  Frei, Klemens ^a,b   Szuhai, Károly ^c   Lucas, Trevor ^a   Weipoltshammer, Klara ^b   Schöfer, Christian ^b   Ramsebner, Reinhard ^b   Baumgartner, Wolf Dieter ^a   Raap, Anton K ^c   Bittner, Reginald ^a   Wachtler, Franz J ^b   Kirschhofer, Karin ^a,b  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b Department of Histology and Embryology ^*  (Austria)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

35delG; Austria; Connexin 26; Molecular beacons; Mutation; Sensorineural deafness

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN; GUANINE; THYMINE;

ADOLESCENT; ADULT; ARTICLE; AUSTRIA; CHILD; DNA SEQUENCE; GENE FREQUENCY; GENETICS; HUMAN; MUTATION; PERCEPTION DEAFNESS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SPECTROFLUOROMETRY; TEMPERATURE; AUTOMATION; AUTOSOMAL INHERITANCE; CONTROLLED STUDY; FAMILIAL DISEASE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PREVALENCE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; AUSTRIA; CHILD; CHILD, PRESCHOOL; CONNEXINS; GENE FREQUENCY; HEARING LOSS, SENSORINEURAL; HUMANS; MUTATION; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SPECTROMETRY, FLUORESCENCE; TEMPERATURE;

EID: 18544388829     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200826     Document Type: Article

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