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首页> 外文期刊>Journal of the European Academy of Dermatology and Venereology: JEADV >Two novel missense mutations of STS gene underlie X-linked recessive ichthyosis: understanding of the mutational and structural spectrum

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Two novel missense mutations of STS gene underlie X-linked recessive ichthyosis: understanding of the mutational and structural spectrum

机译：X连锁隐性鱼鳞病是STS基因的两个新的错义突变：对突变和结构谱的理解

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《Journal of the European Academy of Dermatology and Venereology: JEADV》 |2016年第9期|共3页
作者
Oyama N.; Matsuda M.; Hamada T.; Numata S.; Teye K.; Hashimoto T.; Hasegawa M.;
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正文语种 eng
中图分类皮肤病学与性病学;
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1. Two novel missense mutations of STS gene underlie X-linked recessive ichthyosis: understanding of the mutational and structural spectrum [J] . Oyama N., Matsuda M., Hamada T., Journal of the European Academy of Dermatology and Venereology: JEADV . 2016,第9期

机译：X连锁隐性鱼鳞病是STS基因的两个新的错义突变：对突变和结构谱的理解
2. Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis [J] . YohyaShigehara, ShujiroOkuda, GeorgesNemer, Human Molecular Genetics . 2016,第20期

机译：SDR9C7基因中的突变编码维生素的酶A代谢提出常染色体隐性先天性病症
3. Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia. [J] . Azeem Z, Naqvi SK, Ansar M Archives of dermatological research. . 2009,第8期

机译：功能相关的EDA和EDAR基因的反复突变是X连锁的孤立性牙髓病和常染色体隐性遗传不足的外胚层发育不良的基础。
4. Selection and mutation effects on equilibrium and stability of X-linked recessive diseases [C] . Francesca Verrilli, Hamed Kebriaei, Luigi Glielmo, IEEE Conference on Decision and Control . 2015

机译：选择和突变对X连锁隐性疾病平衡和稳定性的影响
5. Computational assessment of somatic missense mutations detected in tumor sequencing studies with cancer-specific high-throughput annotation of somatic mutations (CHASM). [D] . Carter, Hannah. 2012

机译：具有肿瘤特异性高通量体细胞突变（CHASM）的肿瘤测序研究中检测到的体细胞错义突变的计算评估。
6. Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: a report from the National Registry for Ichthyosis and Related Skin Disorders [O] . Catherine S. Yang, Hyemin Pomerantz, Kathleen A. Mannava, -1

机译：比较X连锁隐性鱼鳞病和常染色体隐性先天性鱼鳞病与转谷氨酰胺酶1突变的患者的组织病理学：国家鱼鳞病和相关皮肤病登记系统的报告
7. Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia:Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients [O] . Hellström Pigg Maritta, Bygum Anette, Gånemo Agneta, 2016

机译：斯堪的纳维亚常染色体隐性先天性鱼鳞病的频谱：132例患者的临床特征以及新发和复发突变

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