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Volumn 66, Issue 4, 2000, Pages 1465-1467

Mutations in the mitochondrial tRNA ser(UCN) anti in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in spanish patients with the 12S rRNA A1555G mutation [1] (multiple letters)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; MITOCHONDRIAL RNA;

EID: 0033912290     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302870     Document Type: Letter
Times cited : (16)

References (14)
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    • Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA indicates multiple independent occurrences of the common mutations
    • MD Brown A Torroni CL Reckord DC Wallace Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA indicates multiple independent occurrences of the common mutations Hum Mutat 6 1995 311 325
    • (1995) Hum Mutat , vol.6 , pp. 311-325
    • Brown, MD1    Torroni, A2    Reckord, CL3    Wallace, DC4
  • 2
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    • Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation
    • Y Bykhovskaya M Shohat K Ehrenman D Johnson M Hamon RM Cantor B Aouizerat Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation Am J Med Genet 77 1998 421 426
    • (1998) Am J Med Genet , vol.77 , pp. 421-426
    • Bykhovskaya, Y1    Shohat, M2    Ehrenman, K3    Johnson, D4    Hamon, M5    Cantor, RM6    Aouizerat, B7
  • 5
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    • Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides
    • X Estivill N Govea E Barcelo E Perelló C Badenas E Romero L Moral Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides Am J Hum Genet 62 1998 27 358
    • (1998) Am J Hum Genet , vol.62 , pp. 27-358
    • Estivill, X1    Govea, N2    Barcelo, E3    Perelló, E4    Badenas, C5    Romero, E6    Moral, L7
  • 7
    • 0030016359 scopus 로고    scopus 로고
    • Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12SrRNA mutation
    • M Guan N Fischel-Ghodsian G Attardi Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12SrRNA mutation Hum Mol Genet 5 1996 963 971
    • (1996) Hum Mol Genet , vol.5 , pp. 963-971
    • Guan, M1    Fischel-Ghodsian, N2    Attardi, G3
  • 9
    • 0033362169 scopus 로고    scopus 로고
    • Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia
    • A Pandya XJ Xia R Erdenetungalag M Amendola B Landa J Radnaabazar B Dangaasuren Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia Am J Hum Genet 65 1999 1803 1806
    • (1999) Am J Hum Genet , vol.65 , pp. 1803-1806
    • Pandya, A1    Xia, XJ2    Erdenetungalag, R3    Amendola, M4    Landa, B5    Radnaabazar, J6    Dangaasuren, B7
  • 10
    • 0027226069 scopus 로고
    • Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
    • TR Prezant JV Agapian MC Bohlman X Bu S Oztas WQ Qiu KS Arnos Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness Nat Genet 4 1993 289 294
    • (1993) Nat Genet , vol.4 , pp. 289-294
    • Prezant, TR1    Agapian, JV2    Bohlman, MC3    Bu, X4    Oztas, S5    Qiu, WQ6    Arnos, KS7
  • 11
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    • Allele specific oligonucleotide analysis (ASO) for the common mutation 35delG in the connexin 26 (GJB2) gene
    • R Rabionet X Estivill Allele specific oligonucleotide analysis (ASO) for the common mutation 35delG in the connexin 26 (GJB2) gene J Med Genet 36 1999 260 261
    • (1999) J Med Genet , vol.36 , pp. 260-261
    • Rabionet, R1    Estivill, X2
  • 12
    • 0028288558 scopus 로고
    • A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
    • FM Reid GA Verhman HT Jacobs A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness Hum Mutat 3 1994 243 247
    • (1994) Hum Mutat , vol.3 , pp. 243-247
    • Reid, FM1    Verhman, GA2    Jacobs, HT3
  • 13
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    • The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness
    • A Torroni F Cruciani C Rengo D Sellitto N López-Bigas R Rabionet N Govea The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness Am J Hum Genet 65 1999 1349 1358
    • (1999) Am J Hum Genet , vol.65 , pp. 1349-1358
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  • 14
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    • Zelante, L1    Gasparini, P2    Estivill, X3    Melchionda, S4    D'Agruma, L5    Govea, N6    Mila, M7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.