Identification of mutation gene GJB2 in patients with hearing impairment

E. Nowakowska-Szyrwinska; L. Sobieszczanska-Radoszewska; T. Bralczyk; W. Wiszniewski; E. Obersztyn; T. Mazurczak; J. Bal

Identification of mutation gene GJB2 in patients with hearing impairment

E. Nowakowska-Szyrwinska, L. Sobieszczanska-Radoszewska, T. Bralczyk, W. Wiszniewski, E. Obersztyn, T. Mazurczak, J. Bal

Research output: Contribution to journal › Short survey › peer-review

Abstract

Prelingual non-syndromic deafness is the most frequent hereditary sensory defect. In more than 80% of cases, the mode of transmission is autosomal recessive. The molecular investigation was carried out in 48 patients from the audiology department in the National Research Insitute of the Mother and Child. We found mutations of the GJB2 gene in 50% of patients. GJB2 gene accounts for a large percentage of the cases of sensorineural prelingual deafness.

Original language	English (US)
Pages (from-to)	44-45
Number of pages	2
Journal	New Medicine
Volume	3
State	Published - 1999
Externally published	Yes

Keywords

GJB2 gene
Mutations
Prelingual deafness

ASJC Scopus subject areas

General Medicine

Cite this

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title = "Identification of mutation gene GJB2 in patients with hearing impairment",

abstract = "Prelingual non-syndromic deafness is the most frequent hereditary sensory defect. In more than 80% of cases, the mode of transmission is autosomal recessive. The molecular investigation was carried out in 48 patients from the audiology department in the National Research Insitute of the Mother and Child. We found mutations of the GJB2 gene in 50% of patients. GJB2 gene accounts for a large percentage of the cases of sensorineural prelingual deafness.",

keywords = "GJB2 gene, Mutations, Prelingual deafness",

author = "E. Nowakowska-Szyrwinska and L. Sobieszczanska-Radoszewska and T. Bralczyk and W. Wiszniewski and E. Obersztyn and T. Mazurczak and J. Bal",

year = "1999",

language = "English (US)",

volume = "3",

pages = "44--45",

journal = "New Medicine",

issn = "1427-0994",

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TY - JOUR

T1 - Identification of mutation gene GJB2 in patients with hearing impairment

AU - Nowakowska-Szyrwinska, E.

AU - Sobieszczanska-Radoszewska, L.

AU - Bralczyk, T.

AU - Wiszniewski, W.

AU - Obersztyn, E.

AU - Mazurczak, T.

AU - Bal, J.

PY - 1999

Y1 - 1999

N2 - Prelingual non-syndromic deafness is the most frequent hereditary sensory defect. In more than 80% of cases, the mode of transmission is autosomal recessive. The molecular investigation was carried out in 48 patients from the audiology department in the National Research Insitute of the Mother and Child. We found mutations of the GJB2 gene in 50% of patients. GJB2 gene accounts for a large percentage of the cases of sensorineural prelingual deafness.

AB - Prelingual non-syndromic deafness is the most frequent hereditary sensory defect. In more than 80% of cases, the mode of transmission is autosomal recessive. The molecular investigation was carried out in 48 patients from the audiology department in the National Research Insitute of the Mother and Child. We found mutations of the GJB2 gene in 50% of patients. GJB2 gene accounts for a large percentage of the cases of sensorineural prelingual deafness.

KW - GJB2 gene

KW - Mutations

KW - Prelingual deafness

UR - http://www.scopus.com/inward/record.url?scp=0033303050&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033303050&partnerID=8YFLogxK

M3 - Short survey

AN - SCOPUS:0033303050

SN - 1427-0994

VL - 3

SP - 44

EP - 45

JO - New Medicine

JF - New Medicine

ER -

Identification of mutation gene GJB2 in patients with hearing impairment

Abstract

Keywords

ASJC Scopus subject areas

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