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GJB2 wt Allele

Known as: Gap Junction Protein Beta 2 wt Allele, Gap Junction Protein, 26kD Gene, DFNA3A 
Human GJB2 wild-type allele is located within 13q11-q12 and is approximately 6 kb in length. This allele, which encodes gap junction beta-2 protein… Expand
National Institutes of Health

Papers overview

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Highly Cited
2003
Highly Cited
2003
Mutations in GJB2, the gene encoding connexin-26 at the DFNB1 locus on 13q12, are found in as many as 50% of subjects with… Expand
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Highly Cited
2002
Highly Cited
2002
BACKGROUND Inherited hearing impairment affects about 1 in 2000 newborns. Up to 50 percent of all patients with autosomal… Expand
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Highly Cited
2002
Highly Cited
2002
Mutations in the gene encoding the gap junction protein connexin26 (Cx26) are responsible for the autosomal recessive isolated… Expand
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Highly Cited
2002
Highly Cited
2002
Keratitis-ichthyosis-deafness syndrome (KID) is a rare ectodermal dysplasia characterized by vascularizing keratitis, profound… Expand
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Highly Cited
2000
Highly Cited
2000
The gene responsible for DNFB1 and DFNA3, connexin 26 (GJB2), was recently identified and more than 20 disease causing mutations… Expand
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Highly Cited
1999
Highly Cited
1999
BACKGROUND DFNB1, the locus of an autosomal recessive form of deafness due to mutations in the connexin-26 gene (CX26 or GJB2) is… Expand
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Highly Cited
1998
Highly Cited
1998
BACKGROUND Hearing impairment affects one infant in 1000 and 4% of people aged younger than 45 years. Congenital deafness is… Expand
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Highly Cited
1998
Highly Cited
1998
Mutations in the connexin 26 (Cx26) gene (GJB2) are associated with the type of autosomal recessive nonsyndromic neurosensory… Expand
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Highly Cited
1997
Highly Cited
1997
Prelingual non-syndromic (isolated) deafness is the most frequent hereditary sensory defect. In >80% of the cases, the mode of… Expand
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Highly Cited
1997
Highly Cited
1997
Non-syndromic neurosensory autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Previous studies… Expand
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