Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria

Hearing Research

Volumn 196, Issue 1-2, 2004, Pages 115-118

  Frei, Klemens ^a   Ramsebner, Reinhard ^a   Lucas, Trevor ^a   Baumgartner, Wolf Dieter ^a   Schoefer, Christian ^a   Wachtler, Franz J ^a   Kirschhofer, Karin ^a,b  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b KRANKENHAUS DER BARMHERZIGEN BRÜDER   (Austria)

Author keywords

Austria; Connexin 26; Connexin 30; del(GJB6 D13S1830); GJB2; GJB6; Mutation; Sensorineural deafness

Indexed keywords

CONNEXIN 26; CONNEXIN 30; GAP JUNCTION BETA 2 PROTEIN; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

AUSTRIA; AUTOSOMAL RECESSIVE INHERITANCE; CONFERENCE PAPER; CONTROLLED STUDY; GAP JUNCTION; GENE DELETION; GENETIC ANALYSIS; GENETIC CODE; HEARING IMPAIRMENT; HUMAN; INHERITANCE; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PRIORITY JOURNAL;

AUSTRIA; CONNEXINS; DEAFNESS; GENE FREQUENCY; GENETIC SCREENING; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HUMANS;

EID: 4644370177     PISSN: 03785955     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.heares.2004.07.001     Document Type: Conference Paper

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