A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family.

Moreno-Pelayo MA; del-Castillo I; Villamar M; Romero L; Hernandez-Calvin FJ; Herraiz C; Barbera R; Navas C; Moreno F

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A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family.

机译：在一个西班牙人的家庭中，α-tectorin的透明带结构域中的半胱氨酸替代导致常染色体显性，舌后，进行性，中频听力丧失。

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来源
《Journal of Medical Genetics》 |2001年第5期|共1页
作者
Moreno-Pelayo MA; del-Castillo I; Villamar M; Romero L; Hernandez-Calvin FJ; Herraiz C; Barbera R; Navas C; Moreno F;
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正文语种 eng
中图分类基础医学;
关键词
Cysteine; Deafness; Extracellular Matrix Proteins; Genes; Dominant; Membrane Glycoproteins; 半胱氨酸; 聋; 细胞外基质蛋白质类; 基因; 显性; 膜糖蛋白类; 突变; 误义; 透明带;

机译：Cysteine;Deafness;Extracellular Matrix Proteins;Genes;Dominant;Membrane Glycoproteins;半胱氨酸;聋;细胞外基质蛋白质类;基因;显性;膜糖蛋白类;突变;误义;透明带;

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1. A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family. [J] . Moreno-Pelayo MA, del-Castillo I, Villamar M, Journal of Medical Genetics . 2001,第5期

机译：在一个西班牙人的家庭中，α-tectorin的透明带结构域中的半胱氨酸替代导致常染色体显性，舌后，进行性，中频听力丧失。
2. SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss [J] . Ma Zhaoxin, Xia Wenjun, Liu Fei, Human Molecular Genetics . 2017,第2期

机译：SLC44A4突变导致常染色体显性遗传性遗传性缺陷非综合征中频听力损失
3. Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss. [J] . Alloisio N, Morle L, Bozon M, European journal of human genetics: EJHG . 1999,第2期

机译：α-tectorin的zonadhesin样结构域中的突变与常染色体显性非综合征性听力损失相关。
4. Mapping a new autosomal dominant hearing loss locus, DFNA20, on 17q25 and searching for the disease causing gene(s). [D] . Wei, Sainan. 2002

机译：在17q25上绘制一个新的常染色体显性遗传性听力损失基因座DFNA20，并寻找引起疾病的基因。
5. A cysteine substitution in the zona pellucida domain of α-tectorin results in autosomal dominant postlingual progressive mid frequency hearing loss in a Spanish family [O] . M. A. Moreno-Pelayo, I. del Castillo, M. Villamar, 2001

机译：α-tectorin的透明带结构域中的半胱氨酸取代导致西班牙家庭中常染色体显性舌后进行性中频听力损失
6. A cysteine substitution in the zona pellucida domain of α-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family [O] . Moreno-Pelayo, M. A., del Castillo, I., Villamar, M., 2001

机译：α-tectorin的透明带结构域中的半胱氨酸取代导致西班牙家庭中常染色体显性，舌后，进行性，中频听力损失
7. Mid-Frequency Hearing Loss in Rats Following Inhalation Exposure to Trichloroethylene: Evidence from Reflex Modification Audiometry [R] . Crofton, K. M., Zhao, X. 1993

机译：吸入暴露于三氯乙烯后大鼠的中频听力损失：来自反射修改的证据

A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family.

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