Concepedia

Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland

Tuija Löppönen, Marja‐Leena Väisänen, Mirja Luotonen, Minna Allinen, Johanna Uusimaa, Päivi Lindholm, Elina Mäki‐Torkko, Mirja R.H. Väyrynen, Heikki Löppönen, Jaakko Leisti

The Laryngoscope · 2003 · 33 citations · 26 references

DOI

Abstract

35delG/35delG genotype was found to be a significant cause of moderate to profound prelingual nonsyndromic sensorineural HI in Northern Finland. M34T/M34T genotype was seen in only one child, but the carrier frequency of the M34T allele was about three times higher than that of the 35delG mutation.

References

26

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

David P. Kelsell, John Dunlop, Howard P. Stevens et al. · Nature · 1997 · 1.5K citations

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Connexin-26 mutations in sporadic and inherited sensorineural deafness

Xavier Estivill, Paolo Fortina, Saul Surrey et al. · The Lancet · 1998 · 642 citations · Full text

Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

Françoise Denoyelle, Dominique Weil, Marion A. Maw et al. · Human Molecular Genetics · 1997 · 635 citations · Full text

Hereditary Hearing Loss and its Syndromes

Journal of Medical Genetics · 1995 · 511 citations

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Novel Mutations in the Connexin 26 Gene (GJB2) That Cause Autosomal Recessive (DFNB1) Hearing Loss

Philip M. Kelley, David J. Harris, B.C. Comer et al. · The American Journal of Human Genetics · 1998 · 505 citations · Full text

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