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GJB2 (Connexin 26) ...
GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort
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- Carlsson, Per-Inge, 1959- (författare)
- Department of Otorhinolaryngology, Central Hospital, Karlstad, Sweden; Audiological Research Centre, Örebro University Hospital, Örebro, Sweden
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- Karltorp, Eva (författare)
- Karolinska Institutet
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- Carlsson-Hansén, Eva (författare)
- Department of Audiology, Örebro University Hospital, Örebro, Sweden
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- Åhlman, Henrik (författare)
- Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden
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- Möller, Claes, 1950- (författare)
- Audiological Research Centre, Örebro University Hospital, Örebro, Sweden; Department of Otorhinolaryngology Karolinska University Hospital, Stockholm, Sweden
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- von Döbeln, Ulrika (författare)
- Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden
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- Vondobeln, U (författare)
- Karolinska Institutet
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(creator_code:org_t)
- 2012-10-07
- 2012
- Engelska.
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Ingår i: Acta Oto-Laryngologica. - London, United Kingdom : Informa Healthcare. - 0001-6489 .- 1651-2251. ; 132:12, s. 1301-1305
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.3...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- Conclusion: The most common mutation in the Swedish population was Connexin 26 (C×26) 35delG, which indicates that the percentage of Swedish persons with C×26 mutations and polymorphisms in the GJB2 gene among non-syndromic hearing-impaired (HI) persons is comparable to the rest of Europe. The results strongly support a Swedish policy to offer all children with diagnosed hearing impairment genetic tests for the C×26 35delG mutation.Objectives: The aim of the present study was to search for mutations in the GBJ2 gene among Swedish persons with non-syndromic hearing impairment to further clarify how common these mutations are in Sweden, one of the northernmost countries in Europe.Methods: Seventy-nine patients with non-syndromic hearing impairment participated in the study. For 87% of the participants, a pure tone audiogram showed a severe or profound hearing impairment. Dried blood spots on filter paper, taken at 3-5 days of age in the Swedish nationwide neonatal screening programme for congenital disorders and saved in a biobank, were used for the molecular genetic analyses.Results: The total number of subjects with one or two pathologic mutations or a mutation of unknown consequence found in the GJB2 gene was 28 of 79 (35%). Nineteen (19) persons (24%) were homozygotes for the 35delG mutation.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oto-rhino-laryngologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Otorhinolaryngology (hsv//eng)
Nyckelord
- Non-syndromic hearing impairment
- genetic tests
- neonatal screening
- Medicine
- Medicin
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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