MUTATION C.925C  T (P.ARG309TRP) IN MECP2 CAUSES A SYNDROMIC FORM OF INTELLECTUAL DISABILITY THAT IS DISTINCT FROM RETT SYNDROME

Hopkin Robert J.; Hufnagel Robert B.

首页> 外文期刊>American journal of medical genetics, Part A >MUTATION C.925C T (P.ARG309TRP) IN MECP2 CAUSES A SYNDROMIC FORM OF INTELLECTUAL DISABILITY THAT IS DISTINCT FROM RETT SYNDROME

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MUTATION C.925C T (P.ARG309TRP) IN MECP2 CAUSES A SYNDROMIC FORM OF INTELLECTUAL DISABILITY THAT IS DISTINCT FROM RETT SYNDROME

机译：突变C.925C＆GT; MECP2中的T（P.ARG309TRP）导致综合征的智力残疾形式与RETT综合征不同

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来源
《American journal of medical genetics, Part A》 |2018年第6期|共1页
作者
Hopkin Robert J.; Hufnagel Robert B.;
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作者单位

Cincinnati Childrens Hosp Med Ctr Cincinnati OH 45229 USA;

NEI Ophthalm Genet &

Visual Funct Branch NIH Bethesda MD 20892 USA;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
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入库时间 2022-08-20 02:16:07

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1. MUTATION C.925C T (P.ARG309TRP) IN MECP2 CAUSES A SYNDROMIC FORM OF INTELLECTUAL DISABILITY THAT IS DISTINCT FROM RETT SYNDROME [J] . Hopkin Robert J., Hufnagel Robert B. American journal of medical genetics, Part A . 2018,第6期

机译：突变C.925C＆GT; MECP2中的T（P.ARG309TRP）导致综合征的智力残疾形式与RETT综合征不同
2. Novel MEF2C point mutations in Chinese patients with Rett (?like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation [J] . Jiaping Wang, Qingping Zhang, Yan Chen, BMC Medical Genetics . 2018,第1期

机译：Rett（？like）综合征或非综合征性智障中国患者的新型MEF2C点突变：基因型与表型相关性的见解
3. Rett Syndrome: Prevalence Among Chinese and a Comparison of MECP2 Mutations of Classic Rett Syndrome With Other Neurodevelopmental Disorders. [J] . Wong VC, Li SY Journal of child neurology . 2007,第12期

机译：瑞特综合症：中国人患病率以及经典瑞特综合症与其他神经发育障碍的MECP2突变的比较。
4. LMNA mutations in progeroid syndromes [C] . Shurong Huang, Brian K. Kennedy, Junko Oshim Novartis Foundation symposium on Nuclear organization in development and disease . 2005

机译：Pro-opid综合征中的LMNA突变
5. A study on two chromatin-related factors: Analysis of MeCP2 and mutations linked to Rett syndrome identification of co-factors for the insulator protein CTCF [D] . Yusufzai, Timur M. 2004

机译：两种与染色质相关的因子的研究：MeCP2分析和与Rett综合征相关的突变鉴定绝缘子蛋白CTCF的辅助因子
6. Novel MEF2C point mutations in Chinese patients with Rett (−like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation [O] . Jiaping Wang, Qingping Zhang, Yan Chen, 2018

机译：Rett（-like）综合征或非综合征性智力障碍的中国患者的新型MEF2C点突变：基因型-表型相关性的见解
7. Novel MEF2C point mutations in Chinese patients with Rett (−like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation [O] . Jiaping Wang, Qingping Zhang, Yan Chen, 2018

机译：中国患者患者的新型MEF2C点突变综合征或非综合征知识分子障碍：洞察基因型 - 表型相关性

MUTATION C.925C T (P.ARG309TRP) IN MECP2 CAUSES A SYNDROMIC FORM OF INTELLECTUAL DISABILITY THAT IS DISTINCT FROM RETT SYNDROME

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