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Identification of Novel Mutations in STAR Gene in Patients with Lipoid Congenital Adrenal Hyperplasia: A First Report from India

机译：脂质先天性肾上腺皮质增生患者中STAR基因新突变的鉴定：来自印度的第一份报告

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来源
《Journal of Clinical Research in Pediatric Endocrinology》 |2013年第2期|共4页
作者
Lakshmi Vasudevan; Rajesh Joshi; Dhanjit Kumar Das; Sudha Rao; Daksha Sanghavi; Shiny Babu; Parag M. Tamhankar;
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中图分类儿科学;
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1. Poly cystic Ovaries and Adrenal Insufficiency in a Young Pubescent Female with Lipoid Congenital Adrenal Hyperplasia Due to Splice Mutation of the StAR Gene:A Case Report and Review of the Literature [J] . Cayce T. Jehaimi, Virginia C. Araiza, Sat D. Batish, Journal of pediatric endocrinology & metabolism: JPEM . 2010,第12期

机译：StAR基因的剪接突变导致青春期女性脂质先天性肾上腺皮质增生的多囊卵巢和肾上腺功能不全：一例病例并文献复习
2. STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: Insights from a novel splice mutation and review of reported cases [J] . CamatsN., PandeyA.V., Fernández-CancioM., Clinical Endocrinology . 2014,第2期

机译：STAR剪接突变导致严重的脂质先天性肾上腺增生表型：从新型剪接突变的见解和已报道病例的回顾
3. Thirty-Eight-Year Follow-Up of Two Sibling Lipoid Congenital Adrenal Hyperplasia Patients Due to Homozygous Steroidogenic Acute Regulatory (STARD1) Protein Mutation. Molecular Structure and Modeling of the STARD1 L275P Mutation [J] . Khalil Khoury, Elie Barbar, Youssef Ainmelk, Frontiers in Neuroscience . 2016,第2012期

机译：由于纯合类固醇激素急性调节（STARD1）蛋白突变，两名兄弟姐妹类脂质先天性肾上腺增生患者的三十八年随访。 STARD1 L275P突变的分子结构和建模
4. Effects of Adrenal Steroids on the Bone Metabolism of Children with Congenital Adrenal Hyperplasia [C] . KAREN LIN-SU, MARIA I. NEW Conference on Skeletal Biology and Medicine . 2007

机译：肾上腺类固醇对先天性增生患儿骨代谢的影响
5. Parental management of adrenal crisis in children with congenital adrenal hyperplasia. [D] . Fleming, Louise Kathleen. 2016

机译：先天性肾上腺皮质增生患儿的肾上腺危机的父母管理。
6. Identification of Novel Mutations in STAR Gene in Patients with Lipoid Congenital Adrenal Hyperplasia: A First Report from India [O] . Lakshmi Vasudevan, Rajesh Joshi, Dhanjit Kumar Das, 2013

机译：脂质先天性肾上腺皮质增生患者中STAR基因新突变的鉴定：来自印度的第一份报告
7. High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia [O] . Jae-Min Kim, Jin-Ho Choi, Jung Hyun Lee, 2011

机译：P.Q258X突变的高等位基因频率和鉴定先天性脂质肾上腺增生的韩国患者星基因的新型错误剪接突变

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