首页> 美国卫生研究院文献>Journal of the Endocrine Society >SAT-360 Out of Sight out of Mind: PHEX 3’-UTR C.*231AG X-Linked Hypophosphatemia in Adults: A Case Study of One Family Pedigree with a Widely Variable Phenotype

【2h】

SAT-360 Out of Sight out of Mind: PHEX 3’-UTR C.*231AG X-Linked Hypophosphatemia in Adults: A Case Study of One Family Pedigree with a Widely Variable Phenotype

机译：SAT-360看不见心不在焉：PHEX 3-UTR C. * 231A G X-Linked缺血血症在成人中：一个具有广泛变量表型的一个家庭谱系的案例研究

代理获取

本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。

页面导航

摘要
著录项
相似文献
相关主题

摘要

Title: Out of Sight, Out of Mind: PHEX 3’-UTR c.*231A>G X-Linked Hypophosphatemia in Adults: A Case Study of One Family Pedigree with a Widely Variable Phenotype

机译：标题：看不见，心不在焉：Phex 3'-UTR C. * 231A> G X-Lixped Hypophyatemia在成人中：一种具有广泛变量表型的一个家庭谱系的案例研究

著录项

期刊名称 Journal of the Endocrine Society
作者
Alexander Williams; Margo Black; Kathryn Dahir;
展开▼
作者单位

展开▼
年(卷),期 2020(4),Suppl 1
年度 2020
页码 SAT-360
总页数 2
原文格式 PDF
正文语种
中图分类基础医学;
关键词

相似文献

外文文献

1. X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3 '-UTR Mutation c.*231A > G (A Retrospective Case-Control Study) [J] . Smith Pamela S., Gottesman Gary S., Zhang Fan, Trends in Ecology & Evolution . 2020,第5期

机译：X链接次磷血症：与PHEX 3'-FURIAC突变相关的唯一轻度疾病C. * 231A> G（回顾性案例控制研究）
2. PHEX 3 '-UTR c.*231A > G Near The Polyadenylation Signal is a Relatively Common, Mild, American Mutation That Masquerades as Sporadic or X-Linked Recessive Hypophosphatemic Rickets [J] . Mumm Steven, Huskey Margaret, Cajic Adela, Journal of bone and mineral research: the official journal of the American Society for Bone and Mineral Research . 2015,第1期

机译：PHEX 3'-UTR c。* 231A> G附近的聚腺苷酸信号是一种相对常见的轻度美国突变，可伪装成零星或X连锁隐性低磷酸盐血症cket
3. Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations [J] . Douglas Chesher, Michael Oddy, Ulpee Darbar, Journal of inherited metabolic disease . 2018,第5期

机译：PHEX基因突变引起的X型次磷血症成年患者的结果
4. Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families [O] . Yue Gao, Zhi-Min Wang, Xia-Lian Li -1

机译：PHEX基因2个新突变引起2族X连锁显性低磷性rick病的分析
5. PHEX3′-UTR c.*231A>G Near The Polyadenylation Signal Is a Relatively Common, Mild, American Mutation That Masquerades as Sporadic or X-Linked Recessive Hypophosphatemic Rickets [O] . Steven Mumm, Margaret Huskey, Adela Cajic, 2014

机译：phex3'-utr c. * 231a>聚亚苯基化信号附近的g是一种相对常见的温和，美洲突变，使得散摩诞或X键的隐性缺血性佝偻病伪装

SAT-360 Out of Sight out of Mind: PHEX 3’-UTR C.*231AG X-Linked Hypophosphatemia in Adults: A Case Study of One Family Pedigree with a Widely Variable Phenotype

摘要

著录项

相似文献

相关主题

期刊订阅