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GJB6基因突变与遗传性耳聋 被引量:3

Mutation of GJB6 and inherited deafness
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出处 《中华耳科学杂志》 CSCD 2005年第4期282-288,共7页 Chinese Journal of Otology
基金 2004年教育部归国人员启动基金资助项目 解放军总医院院长基金资助项目(03YZJJ007)
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  • 1[1]Eugene H.Chang,Guy Van Camp,Richard JH.Smith.The Role of Connexins in Human Disease.Ear and Hearing,2003,24:314-323.
  • 2[2]Jan AY,Amin S,Ratajczak P,et al.Genetic heterogeneity of KID syndrome:identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.J-InvestDermatol,2004,122:1108-1113.
  • 3[3]Dahl E,Manthey D,Chen Y,et al.Molecular cloning and functional expression of mouse connexin-30,a gap junction gene highlyexpressed in adult brain and skin.J.Biol.Chem,1996,271:17903-17910.
  • 4[4]Lautermann J,Frank H,Jahnke K,et al.Developmental expression patterns of connexin-26 and -30 in the rat cochlea.Dev.Genet,1999,25:306-311.
  • 5[5]Grifa A,Wagner CA,D'Ambrosio L,et al.Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.Nature Genet,1999,23:16-18.
  • 6[6]Kelley PM,Abe S,Askew JW,et al.Human connexin 30 (GJB6),a candidate gene for nonsyndromic hearing loss:molecular cloning,tissue-specific expression,and assignment to chromosome 13q12.Genomics,1999,62:172-176.
  • 7[7]http://www.ensembl.com for GJB6.
  • 8[8]Unigene homepage of NCBI for GJB6.(http://www.ncbi.nlm.nih.gov/ uigene).
  • 9[9]Di WL,Rugg EL,Leigh IM,et al.Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin31.J Invest Dermatol,2001,117:958-964.
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