Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population

Annals of Human Genetics

Volumn 69, Issue 1, 2005, Pages 9-14

  Seeman, Pavel ^a   Bendova O ^a   Raskova D ^a   Malikova M ^a   Groh, D ^a   Kabelka, Z ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Connexin 26; Connexin 30; Digenic origin; Double heterozygosity; GJB2; GJB6; Prelingual deafness

Indexed keywords

CONNEXIN 26; CONNEXIN 30;

ARTICLE; CHROMOSOME; CLINICAL ARTICLE; CONTROLLED STUDY; CZECH REPUBLIC; EUROPE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; PERCEPTION DEAFNESS; PRIORITY JOURNAL;

CASE-CONTROL STUDIES; CHILD; CONNEXINS; CZECH REPUBLIC; FEMALE; GENE DELETION; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MICROSATELLITE REPEATS; MUTATION;

EID: 13444274773     PISSN: 00034800     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1529-8817.2003.00120.x     Document Type: Article

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