Connexin26 mutations associated with nonsyndromic hearing loss

Laryngoscope

Volumn 110, Issue 9, 2000, Pages 1535-1538

  Park, Hong Joon ^a   Houn Hahn, Si ^a   Chun, Young Myoung ^a   Park, Keehyun ^a   Kim, Hee Nam ^b  

^a Ajou University School of Medicine   (South Korea)

^b Yonsei University College of Medicine   (South Korea)

Author keywords

Connexin26; Mutation; Nonsyndromic hearing loss

Indexed keywords

CONNEXIN 26;

ADOLESCENT; ARTICLE; AUDIOLOGY; AUTOSOMAL RECESSIVE DISORDER; CHILD; CONGENITAL DEAFNESS; DELETION MUTANT; ETHNIC GROUP; FRAMESHIFT MUTATION; GAP JUNCTION; GENE FREQUENCY; GENE MUTATION; HEARING LOSS; HUMAN; HUMAN TISSUE; INFANT; KOREA; MAJOR CLINICAL STUDY; NEWBORN; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; AUDIOMETRY, PURE-TONE; AUDITORY THRESHOLD; CODON; CONNEXINS; DNA MUTATIONAL ANALYSIS; EVOKED POTENTIALS, AUDITORY, BRAIN STEM; FEMALE; GENE DELETION; GENES, RECESSIVE; HEARING DISORDERS; HUMANS; INFANT, NEWBORN; KOREA; MALE; MUTATION, MISSENSE; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PROSPECTIVE STUDIES;

EID: 0033812813     PISSN: 0023852X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005537-200009000-00023     Document Type: Article

References (14)

1. Genetic epidemiology of hearing impairment
2. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
3. Connexin-26 mutations in sporadic and inherited sensorineural deafness
4. Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene
5. Connexin-26 mutations in sporadic non-syndromal sensorineural deafness
6. Connexin mutations in deafness
7. Connexin 26 gene linked to a dominant deafness
8. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
9. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa
10. Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness
11. Synthesis, assembly and structure of gap junction intercellular channels
12. A new era in the genetics of deafness
13. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss