先天性耳聋患儿76例耳聋基因突变筛查结果研究(2)
[2]
Pandya A.Genetic hearing loss:the journeyof discovery to destination-how close are weto therapy?[J].Molecular Cenetics& Genom-ic Medicine,2016,4(6):583.
[3]
Bayazit YA,Yilmaz M.An overview ofheredi-tary hearing loss[J].Otorhinolaryngology,2006,68(2):57-63.
[4]
GandI aM,Castillo FJD, Gamdo Get al_Correction:A Novel Splice-Site Mutation inthe GJB2 Gene Causing Mild PostlingualHearing Impairment[J].Plos One,2013,8(9):e73566.
[5] Barashkov NA,Pshennikova VG,Posukh OL,et al.Spectrum and Frequency of the CJB2Cene Pathogenic Variants in a Large Cohortof Patients with Hearing Impairment Livingin a Subarctic Region of Russia(the SakhaRepublic)[J].Plos One,2016,11(5):e0156300.
[6]孟培,郝冬梅,張金艳,等.正常人群中遗传性耳聋基因携带者筛查及结果分析[J].中国优生与遗传杂志,2013,(7):7.
[7] Xia JH,Liu CY,Tang BS.Mutations in thegene encoding gap junction protein heta-3associated with autosomal dominant hearingimpairment[J]. Nature Cenetics, 1998,20(4):370.
[8]戴朴,韩东一,冯勃,等.大前庭水管综合征的基因诊断和SLC26A4基因突变分析[J].中国耳鼻咽喉头颈外科,2006713(5):303-307., 百拇医药(易天华 贺建桥)
Pandya A.Genetic hearing loss:the journeyof discovery to destination-how close are weto therapy?[J].Molecular Cenetics& Genom-ic Medicine,2016,4(6):583.
[3]
Bayazit YA,Yilmaz M.An overview ofheredi-tary hearing loss[J].Otorhinolaryngology,2006,68(2):57-63.
[4]
GandI aM,Castillo FJD, Gamdo Get al_Correction:A Novel Splice-Site Mutation inthe GJB2 Gene Causing Mild PostlingualHearing Impairment[J].Plos One,2013,8(9):e73566.
[5] Barashkov NA,Pshennikova VG,Posukh OL,et al.Spectrum and Frequency of the CJB2Cene Pathogenic Variants in a Large Cohortof Patients with Hearing Impairment Livingin a Subarctic Region of Russia(the SakhaRepublic)[J].Plos One,2016,11(5):e0156300.
[6]孟培,郝冬梅,張金艳,等.正常人群中遗传性耳聋基因携带者筛查及结果分析[J].中国优生与遗传杂志,2013,(7):7.
[7] Xia JH,Liu CY,Tang BS.Mutations in thegene encoding gap junction protein heta-3associated with autosomal dominant hearingimpairment[J]. Nature Cenetics, 1998,20(4):370.
[8]戴朴,韩东一,冯勃,等.大前庭水管综合征的基因诊断和SLC26A4基因突变分析[J].中国耳鼻咽喉头颈外科,2006713(5):303-307., 百拇医药(易天华 贺建桥)