{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T12:57:50Z","timestamp":1780491470510,"version":"3.54.1"},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Transl Med"],"published-print":{"date-parts":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>The deafness-associated gene mutation profile varies greatly among regions and races. Due to the multi-ethnic coalition of over one thousand years, non-syndromic deafness (NSD) patients of Uyghur ethnicity may exhibit a unique deafness-associated gene mutation spectrum as compared to Han Chinese deaf population.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>In order to characterize nine loci of four deafness-associated genes of Uyghur NSD patients in comparison with Chinese Han deaf population, NSD patients (n = 350) were enrolled, including Uyghur (n = 199) and Han Chinese (n = 151). Following the history taking, blood samples were collected for DNA extraction. DNA microarray was performed on nine loci of four deafness-associated genes, including 35delG, 176-191del16, 235delC, 299-300delAT, 538C &gt; T, 1555A &gt; G, 1494C &gt; T, 2168A &gt; G, and IVS7-2A &gt; G. The samples that showed the absence of both wild and mutant probe signals were tested for further DNA sequencing analysis.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>The mutations in the nine loci of prevalent deafness-associated genes were detected in 13.06% of Uyghur NSD patients and 32.45% of Han Chinese patients (<jats:italic>P<\/jats:italic> &lt; 0.05), respectively. <jats:italic>GJB2<\/jats:italic> mutation was detected in 9.05% of Uyghur patients and 16.56% of Han Chinese patients (<jats:italic>P<\/jats:italic> &gt; 0.05), respectively. 235delC was the hotspot mutation region in NSD patients of the two ethnicities, whereas 35delG was the mutation hotspot in Uyghur patients. 187delG mutation was detected for the first time in Uyghur NSD patients and considered as an unreported pathological variant of <jats:italic>GJB2. SLC26A4<\/jats:italic> mutation was found in 2.01% of Uyghur patients and 14.57% of Han Chinese patients (<jats:italic>P<\/jats:italic> &lt; 0.05), respectively. The frequencies of mtDNA 12S rRNA mutation in Uyghur and Han Chinese patients were 2.01% and 2.65% (<jats:italic>P<\/jats:italic> &gt; 0.05), respectively. The NSD patients exhibited a low frequency of <jats:italic>GJB3<\/jats:italic> mutation regardless of ethnicity.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>Prevalent deafness-associated gene mutations in the nine loci studied were less frequently detected in Uyghur NSD patients than in Han Chinese patients. <jats:italic>GJB2<\/jats:italic> was the most common mutant gene in the two ethnicities, whilst the two ethnicities differed substantially in hotspot mutations. A low-frequency <jats:italic>SLC26A4<\/jats:italic> mutation was detected in Uyghur NSD patients. Uyghur NSD patients differed significantly from Han Chinese patients in gene mutation profile.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1479-5876-9-154","type":"journal-article","created":{"date-parts":[[2011,9,15]],"date-time":"2011-09-15T10:34:15Z","timestamp":1316082855000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Genetic mutations in non-syndromic deafness patients of uyghur and han chinese ethnicities in xinjiang, China: a comparative study"],"prefix":"10.1186","volume":"9","author":[{"given":"Yu","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayila","family":"Tudi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong-li","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Shang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Di","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilidong","family":"Kuyaxi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,9,14]]},"reference":[{"key":"824_CR1","doi-asserted-by":"publisher","first-page":"2151","DOI":"10.1056\/NEJMra050700","volume":"354","author":"CC Morton","year":"2006","unstructured":"Morton CC, Nance WE: Newborn hearing screening-a silent revolution. N Engl J Med. 2006, 354: 2151-2164. 10.1056\/NEJMra050700.","journal-title":"N Engl J Med"},{"key":"824_CR2","doi-asserted-by":"publisher","first-page":"879","DOI":"10.1016\/S0140-6736(05)71047-3","volume":"365","author":"RJ Smith","year":"2005","unstructured":"Smith RJ, Bale JF, White KR: Sensorineural hearing loss in children. Lancet. 2005, 365: 879-890. 10.1016\/S0140-6736(05)71047-3.","journal-title":"Lancet"},{"key":"824_CR3","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1086\/324122","volume":"69","author":"BL Resendes","year":"2001","unstructured":"Resendes BL, Williamson RE, Morton CC: At the speed of sound: gene discovery in the auditory system. Am J Hum Genet. 2001, 69: 923-935. 10.1086\/324122.","journal-title":"Am J Hum Genet"},{"key":"824_CR4","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1007\/s00439-002-0811-6","volume":"111","author":"XZ Liu","year":"2002","unstructured":"Liu XZ, Xia XJ, Ke XM, Ouyang XM, Du LL, Liu YH, Angeli S, Telischi FF, Nance WE, Balkany T, Xu LR: The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum Genet. 2002, 111: 394-397. 10.1007\/s00439-002-0811-6.","journal-title":"Hum Genet"},{"key":"824_CR5","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1080\/00016480701785046","volume":"128","author":"S Usami","year":"2008","unstructured":"Usami S, Wagatsuma M, Fukuoka H, Suzuki H, Tsukada K, Nishio S, Takumi Y, Abe S: The responsible genes in Japanese deafness patients and clinical application using Invader assay. Acta Otolaryngol. 2008, 128: 446-454. 10.1080\/00016480701785046.","journal-title":"Acta Otolaryngol"},{"key":"824_CR6","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1007\/s00439-002-0889-x","volume":"112","author":"A Ohtsuka","year":"2003","unstructured":"Ohtsuka A, Yuge I, Kimura S, Namba A, Abe S, Van Laer L, Van Camp G, Usami S: GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Hum Genet. 2003, 112: 329-333.","journal-title":"Hum Genet"},{"key":"824_CR7","doi-asserted-by":"publisher","first-page":"945","DOI":"10.1086\/497996","volume":"77","author":"RL Snoeckx","year":"2005","unstructured":"Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB: GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet. 2005, 77: 945-957. 10.1086\/497996.","journal-title":"Am J Hum Genet"},{"key":"824_CR8","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1097\/00125817-200207000-00004","volume":"4","author":"A Kenneson","year":"2002","unstructured":"Kenneson A, Van Naarden Braun K, Boyle C: GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med. 2002, 4: 258-274. 10.1097\/00125817-200207000-00004.","journal-title":"Genet Med"},{"key":"824_CR9","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1016\/j.bbrc.2005.11.156","volume":"340","author":"P Dai","year":"2006","unstructured":"Dai P, Liu X, Han D, Qian Y, Huang D, Yuan H, Li W, Yu F, Zhang R, Lin H, He Y, Yu Y, Sun Q, Qin H, Li R, Zhang X, Kang D, Cao J, Young WY, Guan MX: Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness. Biochem Biophys Res Commun. 2006, 340: 194-199. 10.1016\/j.bbrc.2005.11.156.","journal-title":"Biochem Biophys Res Commun"},{"key":"824_CR10","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1086\/381133","volume":"74","author":"H Zhao","year":"2004","unstructured":"Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, Bai Y, Young WY, Guan MX: Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet. 2004, 74: 139-152. 10.1086\/381133.","journal-title":"Am J Hum Genet"},{"key":"824_CR11","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1007\/s00439-005-1276-1","volume":"117","author":"Z Li","year":"2005","unstructured":"Li Z, Li R, Chen J, Liao Z, Zhu Y, Qian Y, Xiong S, Heman-Ackah S, Wu J, Choo DI, Guan MX: Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss. Hum Genet. 2005, 117: 9-15. 10.1007\/s00439-005-1276-1.","journal-title":"Hum Genet"},{"key":"824_CR12","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1089\/gte.2007.0002","volume":"11","author":"S Abe","year":"2007","unstructured":"Abe S, Yamaguchi T, Usami S: Application of deafness diagnostic screening panel based on deafness mutation\/gene database using invader assay. Genet Test. 2007, 11: 333-340. 10.1089\/gte.2007.0002.","journal-title":"Genet Test"},{"key":"824_CR13","first-page":"804","volume":"42","author":"P Dai","year":"2007","unstructured":"Dai P, Yu F, Han B, Wu H, Yuan YY, Li Q, Wang GJ, Liu X, He J, Huang DL, Kang DY, Zhang X, Yuan HJ, Leejun CW, Han DY: Features of nationwide distribution and frequency of a common gap junction beta-2 gene mutation in China. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2007, 42: 804-808.","journal-title":"Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi"},{"key":"824_CR14","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1111\/j.1399-0004.2007.00862.x","volume":"72","author":"QJ Wang","year":"2007","unstructured":"Wang QJ, Zhao YL, Rao SQ, Guo YF, Yuan H, Zong L, Guan J, Xu BC, Wang DY, Han MK, Lan L, Zhai SQ, Shen Y: A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clin Genet. 2007, 72: 245-254. 10.1111\/j.1399-0004.2007.00862.x.","journal-title":"Clin Genet"},{"key":"824_CR15","doi-asserted-by":"publisher","first-page":"586","DOI":"10.1097\/GIM.0b013e31817d2ef1","volume":"10","author":"P Dai","year":"2008","unstructured":"Dai P, Li Q, Huang D, Yuan Y, Kang D, Miller DT, Shao H, Zhu Q, He J, Yu F, Liu X, Han B, Yuan H, Platt OS, Han D, Wu BL: SLC26A4 c.919-2A > G varies among Chinese ethnic groups as a cause of hearing loss. Genet Med. 2008, 10: 586-592. 10.1097\/GIM.0b013e31817d2ef1.","journal-title":"Genet Med"},{"key":"824_CR16","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1002\/humu.20622","volume":"29","author":"CX Li","year":"2008","unstructured":"Li CX, Pan Q, Guo YG, Li Y, Gao HF, Zhang D, Hu H, Xing WL, Mitchelson K, Xia K, Dai P, Cheng J: Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening. Hum Mutat. 2008, 29: 306-314. 10.1002\/humu.20622.","journal-title":"Hum Mutat"},{"key":"824_CR17","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1136\/jmg.37.1.41","volume":"37","author":"S Abe","year":"2000","unstructured":"Abe S, Usami S, Shinkawa H, Kelley PM, Kimberling WJ: Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet. 2000, 37: 41-43. 10.1136\/jmg.37.1.41.","journal-title":"J Med Genet"},{"key":"824_CR18","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1186\/1479-5876-7-26","volume":"7","author":"P Dai","year":"2009","unstructured":"Dai P, Yu F, Han B, Liu X, Wang G, Li Q, Yuan Y, Liu X, Huang D, Kang D, Zhang X, Yuan H, Yao K, Hao J, He J, He Y, Wang Y, Ye Q, Yu Y, Lin H, Liu L, Deng W, Zhu X, You Y, Cui J, Hou N, Xu X, Zhang J, Tang L, Song R: GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment. J Transl Med. 2009, 7: 26-10.1186\/1479-5876-7-26.","journal-title":"J Transl Med"},{"key":"824_CR19","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1007\/s00439-003-1018-1","volume":"114","author":"D Yan","year":"2003","unstructured":"Yan D, Park HJ, Ouyang XM, Pandya A, Doi K, Erdenetungalag R, Du LL, Matsushiro N, Nance WE, Griffith AJ, Liu XZ: Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. Hum Genet. 2003, 114: 44-50. 10.1007\/s00439-003-1018-1.","journal-title":"Hum Genet"},{"key":"824_CR20","first-page":"1797","volume":"117","author":"ZA Xiao","year":"2004","unstructured":"Xiao ZA, Xie DH: GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation. Chin Med J (Engl). 2004, 117: 1797-1801.","journal-title":"Chin Med J (Engl)"},{"key":"824_CR21","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1097\/GIM.0b013e31804d2371","volume":"9","author":"P Dai","year":"2007","unstructured":"Dai P, Yu F, Han B, Yuan Y, Li Q, Wang G, Liu X, He J, Huang D, Kang D, Zhang X, Yuan H, Schmitt E, Han D, Wong LJ: The prevalence of the 235delC GJB2 mutation in a Chinese deaf population. Genet Med. 2007, 9: 283-289. 10.1097\/GIM.0b013e31804d2371.","journal-title":"Genet Med"},{"key":"824_CR22","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1038\/sj.ejhg.5200406","volume":"8","author":"P Gasparini","year":"2000","unstructured":"Gasparini P, Rabionet R, Barbujani G, Mel\u00e7hionda S, Petersen M, Br\u00f8ndum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L, Estivill X: High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet. 2000, 8: 19-23. 10.1038\/sj.ejhg.5200406.","journal-title":"Eur J Hum Genet"},{"key":"824_CR23","doi-asserted-by":"publisher","first-page":"1239","DOI":"10.1016\/j.ijporl.2007.04.019","volume":"71","author":"O Abidi","year":"2007","unstructured":"Abidi O, Boulouiz R, Nahili H, Ridal M, Alami MN, Tlili A, Rouba H, Masmoudi S, Chafik A, Hassar M, Barakat A: GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation. Int J Pediatr Otorhinolaryngol. 2007, 71: 1239-1245. 10.1016\/j.ijporl.2007.04.019.","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"824_CR24","first-page":"2977","volume":"87","author":"Q Li","year":"2007","unstructured":"Li Q, Dai P, Huang DL, Zhang J, Wang GJ, Zhu QW, Liu X, Han DY: Prevalence of GJB2 mutations in Uigur and Han ethnic populations with deafness in Xinjiang region of China. Zhonghua Yi Xue Za Zhi. 2007, 87: 2977-2981.","journal-title":"Zhonghua Yi Xue Za Zhi"},{"key":"824_CR25","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/j.mrrev.2008.08.002","volume":"681","author":"N Hilgert","year":"2009","unstructured":"Hilgert N, Smith RJ, Van Camp G: Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?. Mutat Res. 2009, 681: 189-196. 10.1016\/j.mrrev.2008.08.002.","journal-title":"Mutat Res"},{"key":"824_CR26","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1186\/1479-5876-6-74","volume":"6","author":"P Dai","year":"2008","unstructured":"Dai P, Yuan Y, Huang D, Zhu X, Yu F, Kang D, Yuan H, Wu B, Han D, Wong LJ: Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. J Transl Med. 2008, 6: 74-10.1186\/1479-5876-6-74.","journal-title":"J Transl Med"},{"key":"824_CR27","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1136\/jmg.40.4.242","volume":"40","author":"HJ Park","year":"2003","unstructured":"Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ: Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet. 2003, 40: 242-248. 10.1136\/jmg.40.4.242.","journal-title":"J Med Genet"},{"key":"824_CR28","doi-asserted-by":"publisher","first-page":"916","DOI":"10.1038\/sj.ejhg.5201073","volume":"11","author":"K Tsukamoto","year":"2003","unstructured":"Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, Usami S: Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur J Hum Genet. 2003, 11: 916-922. 10.1038\/sj.ejhg.5201073.","journal-title":"Eur J Hum Genet"},{"key":"824_CR29","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1080\/00016480701767382","volume":"128","author":"YF Guo","year":"2008","unstructured":"Guo YF, Liu XW, Guan J, Han MK, Wang DY, Zhao YL, Rao SQ, Wang QJ: GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects. Acta Otolaryngol. 2008, 128: 297-303. 10.1080\/00016480701767382.","journal-title":"Acta Otolaryngol"},{"key":"824_CR30","first-page":"893","volume":"42","author":"Q Li","year":"2007","unstructured":"Li Q, Dai P, Huang DL, Yuan YY, Zhu QW, Han B, Liu X, Yu F, Kang DY, Zhang X, Xue DD, Jin ZC: Frequency of SLC26A4 IVS7-2A > G mutation in patients with severe to profound hearing loss from different area and ethnic group in China. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2007, 42: 893-897.","journal-title":"Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi"},{"key":"824_CR31","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1517\/14622416.6.1.27","volume":"6","author":"N Fischel-Ghodsian","year":"2005","unstructured":"Fischel-Ghodsian N: Genetic factors in aminoglycoside toxicity. Pharmacogenomics. 2005, 6: 27-36. 10.1517\/14622416.6.1.27.","journal-title":"Pharmacogenomics"},{"key":"824_CR32","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1016\/j.gene.2007.01.001","volume":"393","author":"X Tang","year":"2007","unstructured":"Tang X, Yang L, Zhu Y, Liao Z, Wang J, Qian Y, Tao Z, Hu L, Wu G, Lan J, Wang X, Ji J, Wu J, Ji Y, Feng J, Chen J, Li Z, Zhang X, Lu J, Guan MX: Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. Gene. 2007, 393: 11-19. 10.1016\/j.gene.2007.01.001.","journal-title":"Gene"},{"key":"824_CR33","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1038\/ng0793-289","volume":"4","author":"TR Prezant","year":"1993","unstructured":"Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, Arnos KS, Cortopassi GA, Jaber L, Rotter JI, Shohat M, Fischel-Ghodsian N: Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet. 1993, 4: 289-294. 10.1038\/ng0793-289.","journal-title":"Nat Genet"},{"key":"824_CR34","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1086\/301676","volume":"62","author":"X Estivill","year":"1998","unstructured":"Estivill X, Govea N, Barcel\u00f3 E, Badenas C, Romero E, Moral L, Scozzri R, D'Urbano L, Zeviani M, Torroni A: Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet. 1998, 62: 27-35. 10.1086\/301676.","journal-title":"Am J Hum Genet"},{"key":"824_CR35","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1136\/jmg.37.1.38","volume":"37","author":"S Usami","year":"2000","unstructured":"Usami S, Abe S, Akita J, Namba A, Shinkawa H, Ishii M, Iwasaki S, Hoshino T, Ito J, Doi K, Kubo T, Nakagawa T, Komiyama S, Tono T, Komune S: Prevalence of mitochondrial gene mutations among hearing impaired patients. J Med Genet. 2000, 37: 38-40. 10.1136\/jmg.37.1.38.","journal-title":"J Med Genet"},{"key":"824_CR36","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1038\/3845","volume":"20","author":"JH Xia","year":"1998","unstructured":"Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH, Huang JZ: Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet. 1998, 20: 370-373. 10.1038\/3845.","journal-title":"Nat Genet"},{"key":"824_CR37","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1093\/hmg\/9.1.63","volume":"9","author":"XZ Liu","year":"2000","unstructured":"Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, Brown SD, Steel KP, Nance WE: Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. Hum Mol Genet. 2000, 9: 63-67. 10.1093\/hmg\/9.1.63.","journal-title":"Hum Mol Genet"},{"key":"824_CR38","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/j.heares.2004.03.007","volume":"194","author":"K Frei","year":"2004","unstructured":"Frei K, Ramsebner R, Hamader G, Lucas T, Schoefer C, Baumgartner WD, Wachtler FJ, Kirschhofer K: Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria. Hear Res. 2004, 194: 81-86. 10.1016\/j.heares.2004.03.007.","journal-title":"Hear Res"}],"container-title":["Journal of Translational Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1479-5876-9-154.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T16:51:32Z","timestamp":1630515092000},"score":1,"resource":{"primary":{"URL":"https:\/\/translational-medicine.biomedcentral.com\/articles\/10.1186\/1479-5876-9-154"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9,14]]},"references-count":38,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,12]]}},"alternative-id":["824"],"URL":"https:\/\/doi.org\/10.1186\/1479-5876-9-154","relation":{},"ISSN":["1479-5876"],"issn-type":[{"value":"1479-5876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,9,14]]},"assertion":[{"value":"1 March 2011","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 September 2011","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 September 2011","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"154"}}