Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss

[1] Abe S, 2001, AM J MED GENET, V103, P334, DOI 10.1002/1096-8628(20011101)103:4<334::AID-AJMG1574>3.3.CO

[2] 2-6

[3] Modifier locus for mitochondrial DNA disease: Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness [J]. GENETICS IN MEDICINE, 2001, 3 (03) : 177 - 180

[4] Candidate locus for a nuclear modifier gene for maternally inherited deafness [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (06) : 1905 - 1910

[5] Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12S rRNA gene: Evidence of heteroplasmy [J]. NEUROLOGY, 1997, 48 (02) : 453 - 456

[6] Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (01) : 27 - 35

[7] Fischel-Ghodsian N, 1999, HUM MUTAT, V13, P261, DOI 10.1002/(SICI)1098-1004(1999)13:4<261::AID-HUMU1>3.0.CO

[8] 2-W

[9] Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation [J]. HUMAN MOLECULAR GENETICS, 2001, 10 (06) : 573 - 580

[10] Biochemical evidence for nuclear gene involvement phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation [J]. HUMAN MOLECULAR GENETICS, 1996, 5 (07) : 963 - 971

[1] Abe S, 2001, AM J MED GENET, V103, P334, DOI 10.1002/1096-8628(20011101)103:4<334::AID-AJMG1574>3.3.CO

[2] 2-6

[3] Modifier locus for mitochondrial DNA disease: Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness [J]. GENETICS IN MEDICINE, 2001, 3 (03) : 177 - 180

[4] Candidate locus for a nuclear modifier gene for maternally inherited deafness [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (06) : 1905 - 1910

[5] Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12S rRNA gene: Evidence of heteroplasmy [J]. NEUROLOGY, 1997, 48 (02) : 453 - 456

[6] Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (01) : 27 - 35

[7] Fischel-Ghodsian N, 1999, HUM MUTAT, V13, P261, DOI 10.1002/(SICI)1098-1004(1999)13:4<261::AID-HUMU1>3.0.CO

[8] 2-W

[9] Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation [J]. HUMAN MOLECULAR GENETICS, 2001, 10 (06) : 573 - 580

[10] Biochemical evidence for nuclear gene involvement phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation [J]. HUMAN MOLECULAR GENETICS, 1996, 5 (07) : 963 - 971