The M34T allele variant of Connexin 26

Genetic Testing

Volumn 4, Issue 4, 2000, Pages 335-344

  Cucci, R A ^a   Prasad, S ^a   Kelley, P M ^b   Green, G E ^a   Storm, K ^c   Willocx, S ^c   Cohn, E S ^b   Van Camp, G ^c   Smith, R J H ^a  

^a UNIVERSITY OF IOWA HEALTH CARE   (United States)

^b BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

^c UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; FEMALE; GAP JUNCTION; GENE MUTATION; GENE SEGREGATION; GENETIC VARIABILITY; GENOTYPE; HEARING LOSS; HUMAN; MALE;

ALLELES; AMINO ACID SUBSTITUTION; AUDIOMETRY; CONNEXINS; DEAFNESS; EUROPE; FEMALE; GAP JUNCTIONS; GENES, DOMINANT; GENETIC SCREENING; GENOTYPE; HUMANS; MALE; MUTATION; PEDIGREE; REPRODUCIBILITY OF RESULTS; UNITED STATES; VARIATION (GENETICS);

EID: 0034503365     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065700750065063     Document Type: Article

References (23)

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2. Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene
3. Connexin-26 mutations in sporadic and inherited sensorineural deafness
4. Intracellular trafficking pathways in the assembly of connexins into gap junctions
5. Modulation of cell junctions during differentiation of the chicken otocyst sensory epithelium
6. Connexins, connexons, and intercellular communication
7. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness
8. Novel mutations in the Connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
9. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
10. Connexin-26 mutations in sporadic non-syndromal sensorineural deafness
11. Properties of connexin 26 gap junctional proteins derived from mutations associated with non-syndromal hereditary deafness
12. Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease
13. Longitudinal endolymph movements induced by perilymphatic injections
14. Mechanisms of endocochlear potential generation by stria vascularis
15. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
16. Connexin mutations and hearing loss
17. Intercellular junctional maturation in the stria vascularis: Possible association with onset and rise of EP
18. The fine structure of spiral ligament cells relates to ion return to the stria and varies with place-frequency
19. Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method
20. Homoeostatic mechanisms in the cochlear
21. Connexin mutations in deafness
22. Connexin 26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans