Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism

Dong Li; Elizabeth A. Streeten; Alice Chan; Wint Lwin; Lifeng Tian; Renata Pellegrino da Silva; Cecilia E. Kim; Mark S. Anderson; Hakon Hakonarson; Michael A. Levine

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Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism

机译：外显子组测序显示AIRE突变是孤立性甲状旁腺功能低下的原因

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AbstractContext:Most cases of autosomal recessive hypoparathyroidism (HYPO) are caused by loss-of-function mutations in GCM2 or PTH.

机译：摘要背景：常染色体隐性甲状旁腺功能减退症（HYPO）的大多数情况是由GCM2或PTH的功能丧失突变引起的。

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《The journal of clinical endocrinology and metabolism》 |2017年第5期|共8页
作者
Dong Li; Elizabeth A. Streeten; Alice Chan; Wint Lwin; Lifeng Tian; Renata Pellegrino da Silva; Cecilia E. Kim; Mark S. Anderson; Hakon Hakonarson; Michael A. Levine;
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1. Whole Exome Sequencing and Targeted Sequencing Reveal the Heterogeneity of Genomic Evolution and Mutational Profile in Smoldering Multiple Myeloma [J] . Salem Karma, Park Jihye, Freymond Claudia, Blood: The Journal of the American Society of Hematology . 2016,第22期

机译：整个外显子组测序和靶向测序揭示了闷烧多发性骨髓瘤的基因组进化和突变谱的异质性。
2. Whole Exome Sequencing and Targeted Sequencing Reveal the Heterogeneity of Genomic Evolution and Mutational Profile in Smoldering Multiple Myeloma [J] . Salem Karma, Park Jihye, Freymond Claudia, Blood: The Journal of the American Society of Hematology . 2016,第22期

机译：整个外显子组测序和靶向测序揭示了闷烧多发性骨髓瘤的基因组进化和突变谱的异质性。
3. Exome Sequencing Reveals Compound Heterozygous Mutations in ATP8B1 in a JAG1/NOTCH2 Mutation-Negative Patient with Clinically Diagnosed Alagille Syndrome [J] . Grochowski Christopher M., Rajagopalan Ramakrishnan, Falsey Alexandra M., American journal of medical genetics, Part A . 2015,第4期

机译：外显子组测序揭示了JAG1 / NOTCH2突变阴性临床诊断为Alagille综合征的患者中ATP8B1的复合杂合突变。
4. A Bioinformatics Procedure to Identify and Annotate Somatic Mutations in Whole-Exome Sequencing Data [C] . Roberta Spinelli, Rocco Piazza, Alessandra Pirola, International meeting on computational intelligence methods for bioinformatics and biostatistics . 2012

机译：在整个外显子组测序数据中识别和注释体细胞突变的生物信息学程序
5. Analysis of somatic mutations identified by whole-exome sequencing in colorectal cancer metastasis [D] . Zhao, Bixiao 2016

机译：通过全外显子测序鉴定的大肠癌转移中的体细胞突变分析
6. Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism [O] . Dong Li, Elizabeth A. Streeten, Alice Chan, -1

机译：外显子组测序显示AIRE突变是孤立性甲状旁腺功能低下的原因
7. Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism [O] . Dong Li, Elizabeth A. Streeten, Alice Chan, 2017

机译：Exome测序揭示了Aire中的突变作为分离的嗜甲状腺功能亢进的原因

Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism

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