A Recurrent Heterozygous RPL21 Mutation Responsible for Hereditary Hypotrichosis Simplex in a Chinese Family

Xu Z.; Tang Y.

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A Recurrent Heterozygous RPL21 Mutation Responsible for Hereditary Hypotrichosis Simplex in a Chinese Family

机译：一种经常性的杂合子RPL21突变，负责中国家庭的遗传性椎间盘病变

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来源
《The Journal of molecular diagnostics: JMD》 |2018年第6期|共1页
作者
Xu Z.; Tang Y.;
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作者单位

Capital Med Univ Natl Ctr Childrens Hlth Beijing Childrens Hosp Beijing Peoples R China;

Mem Sloan Kettering Canc Ctr 1275 York Ave New York NY 10021 USA;

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原文格式 PDF
正文语种 eng
中图分类临床医学;
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1. A Recurrent Heterozygous RPL21 Mutation Responsible for Hereditary Hypotrichosis Simplex in a Chinese Family [J] . Xu Z., Tang Y. The Journal of molecular diagnostics: JMD . 2018,第6期

机译：一种经常性的杂合子RPL21突变，负责中国家庭的遗传性椎间盘病变
2. A novel insertion mutation of CDSN CDSN CDSN responsible for hypotrichosis simplex of scalp in a Chinese family [J] . Huang H., Sun J., Fu L., Clinical and experimental dermatology . 2018,第6期

机译：CDSN CDSN CDSN的一种新型插入突变，其负责中国家庭头皮的头皮病变
3. Novel heterozygous mutation, c.74C>G (p.Pro25Arg), in the U2HR gene underlies Marie Unna hereditary hypotrichosis in a Japanese family [J] . Yoshida Kazue, Hayashi Ryota, Shimomura Yutaka, The Journal of dermatology . 2017,第8期

机译：新型杂合性突变，C.74C> G（p.pro25arg），在U2HR基因下是日本家庭的Marie Unna遗传性腹腔病
4. HEREDITARY AMYLOIDOSIS IN A SPANISH FAMILY ASSOCIATED WITH A NOVEL NONSTOP MUTATION IN THE GENE FOR APOL1POPROTEIN All [C] . D. Rowczenio, J.A. Gilbertson, A. Bybee, International Symposium on Amyloidosis . 2005

机译：西班牙家庭的遗传性淀粉样蛋白病与Apol1poprotein基因中的一种新的非级别突变相关
5. Chinese hereditary mathematician families of the Astronomical Bureau, 1620--1850. [D] . Chang, Ping-Ying. 2015

机译：天文局的中国遗传数学家，1620--1850年。
6. Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report [O] . Xiaoqian Zhang, Lei Zhang, Yanqing Wu, 2018

机译：中国家庭中新型复合杂合子SPG7突变相关性遗传性痉挛性截瘫的鉴定：病例报告
7. A screening analysis of the GJB2 c.176 del 16 mutation responsible for hereditary deafness in a Chinese family [O] . Jiang Hao, Shi Xi, Qiu Shiwei, 2016

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A Recurrent Heterozygous RPL21 Mutation Responsible for Hereditary Hypotrichosis Simplex in a Chinese Family

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