Coincidence of mutations in different connexin genes in Hungarian patients

International Journal of Molecular Medicine

Volumn 20, Issue 3, 2007, Pages 315-321

  Tóth, Tímea ^a   Kupka, Susan ^b   Haack, Birgit ^b   Fazakas, Ferenc ^c   Muszbek, LáSzló ^c   Blin, Nikolaus ^d   Pfister, Markus ^b   Sziklai, István ^a  

^a UNIVERSITY OF DEBRECEN   (Hungary)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c UNIVERSITY OF DEBRECEN   (Hungary)

^d UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

GJB2 splice site mutation; GJB3; GJB6; Hearing impairment; Heterozygous GJB2 mutation

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN; GJB3 PROTEIN, HUMAN; GJB6 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ARTICLE; CASE CONTROL STUDY; EXON; GENE DELETION; GENETIC SCREENING; GENETICS; HETEROZYGOTE; HUMAN; HUNGARY; MUTATION; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; POINT MUTATION; PROMOTER REGION; RNA SPLICING;

5' UNTRANSLATED REGIONS; CASE-CONTROL STUDIES; CONNEXINS; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC SCREENING; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HUMANS; HUNGARY; MUTATION; POINT MUTATION; PROMOTER REGIONS (GENETICS); RNA SPLICE SITES; SEQUENCE DELETION;

EID: 35148816153     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.20.3.315     Document Type: Article

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