A Novel EDARADD 5 '-Splice Site Mutation Resulting in Activation of Two Alternate Cryptic St-Splice Sites Causes Autosomal Recessive Hypohidrotic Ectodermal Dysplasia

Chaudhary Ajay K.; Girisha Katta M.; Bashyam Murali D.

首页> 外文期刊>American journal of medical genetics, Part A >A Novel EDARADD 5 '-Splice Site Mutation Resulting in Activation of Two Alternate Cryptic St-Splice Sites Causes Autosomal Recessive Hypohidrotic Ectodermal Dysplasia

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A Novel EDARADD 5 '-Splice Site Mutation Resulting in Activation of Two Alternate Cryptic St-Splice Sites Causes Autosomal Recessive Hypohidrotic Ectodermal Dysplasia

机译：一种新型的EDARADD 5'-剪接位点突变，导致两个交替的隐性St-剪接位点的激活导致常染色体隐性低多晶型胚泡发育异常

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《American journal of medical genetics, Part A》 |2016年第6期|共3页
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Chaudhary Ajay K.; Girisha Katta M.; Bashyam Murali D.;
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正文语种 eng
中图分类医学遗传学;
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1. A Novel EDARADD 5 '-Splice Site Mutation Resulting in Activation of Two Alternate Cryptic St-Splice Sites Causes Autosomal Recessive Hypohidrotic Ectodermal Dysplasia [J] . Chaudhary Ajay K., Girisha Katta M., Bashyam Murali D. American journal of medical genetics, Part A . 2016,第6期

机译：一种新型的EDARADD 5'-剪接位点突变，导致两个交替的隐性St-剪接位点的激活导致常染色体隐性低多晶型胚泡发育异常
2. X‐linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation [J] . Milovidova T.B., Schagina O.A., Freire M.V., Journal of the European Academy of Dermatology and Venereology: JEADV . 2019,第12期

机译：X链接的水性异位异位异常增生：用同义词P.SER267 =（C.801A> G）剪接位点突变的临床和分子遗传分析
3. Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1 [J] . Hsu Chao-Kai, Liu Lu, Can Pelin K., Journal of dermatological science . 2016,第2期

机译：由PKP1中新的非典型纯合隐接受体剪接位点突变引起的表皮发育异常-皮肤脆性综合征
4. Phosphoenolpyruvate carboxylase (PEPC): mutational analysis of a flexible loop and a putative binding site for an allosteric activator, glucose 6-phosphate (G6P) [C] . A Terada, M Kotera, K Tsumura, International Congress on Photosynthesis . 2001

机译：磷酸丙烯酸盐羧基（Pepc）：柔性环的突变分析和血糖活化剂的推定结合位点，葡萄糖6-磷酸（G6P）
5. Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome. [D] . Kuslich, Christine D. 1999

机译：人类遗传疾病的多种机制：COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
6. A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene [O] . Takashi Kuramoto, Mayuko Yokoe, Ryoko Hashimoto, 2011

机译：汗湿性外胚层发育不良的大鼠模型在Edaradd基因中携带一个错义突变
7. Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1 [O] . Hsu Chao-Kai, Liu Lu, Can Pelin K., 2016

机译：PKP1中新的非典型纯合隐接受体剪接位点突变导致的表皮发育异常-皮肤脆性综合征

A Novel EDARADD 5 '-Splice Site Mutation Resulting in Activation of Two Alternate Cryptic St-Splice Sites Causes Autosomal Recessive Hypohidrotic Ectodermal Dysplasia

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