Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis

Uitto J.; Youssefian L.; Vahidnezhad H.

首页> 外文期刊>British Journal of Dermatology >Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis

【24h】

Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis

机译：扩大突变景观及常染色体隐性先天性病例的表型谱

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

著录项
相似文献
相关主题

著录项

来源
《British Journal of Dermatology》 |2017年第2期|共3页
作者
Uitto J.; Youssefian L.; Vahidnezhad H.;
展开▼
作者单位

Thomas Jefferson Univ Dept Dermatol &

Cutaneous Biol Sidney Kimmel Med Coll Philadelphia PA;

Thomas Jefferson Univ Dept Dermatol &

Cutaneous Biol Sidney Kimmel Med Coll Philadelphia PA;

Thomas Jefferson Univ Dept Dermatol &

Cutaneous Biol Sidney Kimmel Med Coll Philadelphia PA;

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类皮肤病学与性病学;
关键词

相似文献

外文文献
中文文献
专利

1. Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis [J] . Uitto J., Youssefian L., Vahidnezhad H. British Journal of Dermatology . 2017,第2期

机译：扩大突变景观及常染色体隐性先天性病例的表型谱
2. Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families [J] . Youssefian Leila, Vahidnezhad Hassan, Saeidian Amir Hossein, Human mutation . 2019,第3期

机译：常染色体隐性先天性ICHTHYOSIS：125个近亲家族队列中的基因组景观和表型谱
3. Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation [J] . Boyden L. M., Craiglow B. G., Hu R. H., British Journal of Dermatology . 2017,第1期

机译：由于PNPLA1突变引起的常染色体隐性先天性化学性的表型谱
4. Autosomal recessive ichthyosis in golden retriever dogs: distribution and frequency of the PNPLA1 mutant allele in different populations [C] . Eric Guaguere, Anne Thomast, Anais Grail, World Congress of Veterinary Dermatology . 2013

机译：金毛犬常染色体隐性的IChthyosisis：PNPLA1突变等位基因在不同种群中的分布和频率
5. Investigation of daily four month sildenafil administration on heterozygous carriers of a phosphodiesterase 6 mutation in a canine model of autosomal recessive retinitis pigmentosa. [D] . Pierce, Kenneth E., Jr. 2011

机译：在常染色体隐性遗传性视网膜炎的犬模型中，每天四个月西地那非对磷酸二酯酶6突变的杂合子载体给药的研究。
6. Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis Due to PNPLA1 Mutation [O] . L.M. Boyden, B.G. Craiglow, R.H. Hu, -1

机译：PNPLA1突变导致常染色体隐性先天性鱼鳞病的表型谱
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

Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis

著录项

相似文献

相关主题

期刊订阅