Connexin-26 mutations in sporadic non-syndromal sensorineural deafness

Lancet

Volumn 351, Issue 9100, 1998, Pages 415-

  Lench, Nicholas ^a   Houseman, Mark ^b   Newton, Valerie ^b   Van Camp, Guy ^b   Mueller, Robert ^b  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; GENE MUTATION; HUMAN; INHERITANCE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RECURRENCE RISK; SCREENING;

EID: 0345055300     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(98)24006-2     Document Type: Article

References (5)

1. Van Camp G, Willems PJ, Smith RJH. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet 1997; 60: 758-64.
2. Kelsell DP, Dunlop J, Stevens HP, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997; 387: 80-83.
3. Denoyelle F, Weil D, Maw MA, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. HuM Mol Genet 1997; 6: 2173-77.
4. Zelante L, Gasparini P, Estivill X, et al. Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997; 6: 1605-09.
5. Kajiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 1994; 264: 1604-08.