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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

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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Jae-Min Kim; Jin-Ho Choi; Jung Hyun Lee; Gu-Hwan Kim; Beom Hee Lee; Hae Soon Kim; Jeh-Hoon Shin; Choong-Ho Shin; Chan Jong Kim; Jeesuk Yu; Dae-Yeol Lee; Won Kyoung Cho; Byung-Kyu Suh; Ji Eun Lee; Hye Rim Chung; Han-Wook Yoo;
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1. Identification of Novel Mutations in STAR Gene in Patients with Lipoid Congenital Adrenal Hyperplasia: A First Report from India [J] . Lakshmi Vasudevan, Rajesh Joshi, Dhanjit Kumar Das, Journal of Clinical Research in Pediatric Endocrinology . 2013,第2期

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
2. Mutation Spectrum of STAR and the Founder Effect of p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia [J] . Eungu Kang, Yoon-Myung Kim, Gu-Hwan Kim, Molecular medicine. . 2017,第1期

机译：韩国先天性类脂质肾上腺皮质增生患者的STAR突变谱和p.Q258 *的建立效应
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. Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome [C] . Katsiaryna Belaya, Sarah Finlayson, Judith Cossins, International Conference on Myasthenia Gravis and Related Disorders . 2012

机译：鉴定DPAGT1作为突变引起先天性染发素综合征的新基因
5. Mutation profiling in colorectal cancer patients with microsatellite instability; High frequency of BRCA2 and EGFR somatic mutations [D] . Deihimi, Safoora. 2016

机译：具有微卫星不稳定性的大肠癌患者的突变谱； BRCA2和EGFR体细胞突变的频率高
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. 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. [O] . Jean-Guy Lehoux 2016

机译：由于纯合子类固醇激素调节（sTaRD1）蛋白突变，对两个同胞类脂质先天性肾上腺增生患者进行了38年的随访。 sTaRD1 L275p突变的分子结构和模型。

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

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