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Mutation at exon 39 of myosin 15 is rare or absent among people with profound sensorineural deafness in Kerala

机译：在喀拉拉邦患有严重的感音神经性耳聋的人中，肌球蛋白15的第39外显子突变很少或不存在

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《Current Science: A Fortnightly Journal of Research》 |2000年第5期|共2页
作者
Joseph AY.; Rasool TJ.; Menon UR.;
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正文语种 eng
中图分类自然科学现状及发展;
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入库时间 2022-08-18 09:46:43

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1. Mutation at exon 39 of myosin 15 is rare or absent among people with profound sensorineural deafness in Kerala [J] . Joseph AY., Rasool TJ., Menon UR. Current Science: A Fortnightly Journal of Research . 2000,第5期

机译：在喀拉拉邦患有严重的感音神经性耳聋的人中，肌球蛋白15的第39外显子突变很少或不存在
2. Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China [J] . Luo Jianfen, Bai Xiaohui, Zhang Fengguo, Annals of Human Genetics . 2017,第6期

机译：岩石植入植物植入牙龈植入患者的突变性突变患病率
3. Mutations in exons 3 and 7 resulting in truncated expression of human ATP6V1B1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness [J] . Kumar Pasupuleti Santhosh, Venkatesh Katari, Sowjenya Gopal, Journal of Biomolecular Structure and Dynamics . 2015,第9a10期

机译：外显子3和7的突变导致人ATP6V1B1基因的表达被截断，显示出结构变异，导致底物结合不良，导致远端肾小管酸中毒并伴感音神经性耳聋
4. A PROGRAMMABLE SPEECH PROCESSOR FOR PROFOUNDLY DEAF PEOPLE [C] . Rejean Fontaine, Antoine Alary, Jaouhar Mouine, 1995 IEEE engineering in medicine and biology 17th annual conference and 21st Canadian medical and biological engineering conference . 1997

机译：严重聋人的可编程语音处理器
5. Novel association of hypertrophic cardiomyopathy sensorineural deafness and a mutation in unconventional myosin VI (MYO6) [O] . S Mohiddin, Z Ahmed, A Griffith, 2004

机译：肥厚型心肌病感觉神经性耳聋和非常规肌球蛋白VI（MYO6）突变的新型关联
6. Rare but Relevant Kidney DisordersSeizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Natl Acad Sci U S A 106: 5842–5847, 2009Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med 360: 1960–1970, 2009A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. J Clin Invest 119: 936–942, 2009Idiopathic retroperitoneal fibrosis: Prospective evaluation of incidence and clinicoradiologic presentation. Medicine 88: 193–201, 2009Retroperitoneal fibrosis: The clinical, laboratory, and radiographic presentation. Medicine 88: 202–207, 2009Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N Engl J Med 361: 345–357, 2009 [O] . Jean-Pierre Grünfeld, UI Scholl, D Bockenhauer, 2009

机译：罕见但相关的肾脏障碍，感觉耳聋，共济失调，智力延迟和蛋白突变中突变引起的电解质不平衡（芝麻综合征）。 Proc Natl Acad SCI U S A 106：5842-5847，2009ppsy，Ataxia，感觉耳聋，小管病和KCNJ10突变。 N Engl J Med 360：1960-1970,2009A在KV1.1电压门控钾通道的密码突变与人类常染色体显性低残碱血症相关。 J Clin Invest 119：936-942，2009肝病腹膜纤维化：发病率和临床介绍的前瞻性评价。医学88：193-201，2009Retropropeal纤维化：临床，实验室和放射线介绍。药物88：202-207，非典型溶血性尿毒症综合征中的2009例突变蛋白突变。 n Engl J Med 361：345-357，2009

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