De novo and inherited pathogenic variants in collagen‐related osteogenesis imperfecta

机译：胶原相关成骨不全症的新生和遗传致病变异

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BackgroundOsteogenesis imperfecta (OI) is a rare genetic bone fragility disorder. In the current study, differences between the genotypes and phenotypes of de novo and inherited collagen‐related OI were investigated.

机译：背景成骨不全症（OI）是一种罕见的遗传性骨脆性疾病。在当前的研究中，研究了从头基因型和遗传型胶原相关OI的基因型和表型之间的差异。

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期刊名称 Molecular Genetics Genomic Medicine
作者
Lidiia Zhytnik; Katre Maasalu; Binh Ho Duy; Andrey Pashenko; Sergey Khmyzov; Ene Reimann; Ele Prans; Sulev Kõks; Aare Märtson;
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作者单位

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年(卷),期 2019(7),3
年度 2019
页码 e559
总页数 11
原文格式 PDF
正文语种
中图分类遗传学;
关键词
bone fragility collagen de novo osteogenesis imperfecta Sanger sequencing;

机译：骨脆性;胶原蛋白;从头开始;成骨不全症;Sanger测序;

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专利

1. De novo and inherited pathogenic variants in collagen‐related osteogenesis imperfecta [J] . Lidiia Zhytnik, Katre Maasalu, Binh Ho Duy, Molecular Genetics & Genomic Medicine . 2019,第3期

机译：脱诺和血糖相关成骨型骨质型植物遗传性变异
2. Longitudinal growth curves for children with classical osteogenesis imperfecta (types Ill and IV) caused by structural pathogenic variants in type I collagen [J] . Barber Lauren A., Abbott Craig, Nakhate Vihang, Genetics in medicine . 2019,第5期

机译：由I型胶原蛋白的结构致病变体引起的典型成骨种患者纵向生长曲线
3. Dominantly Inherited Osteogenesis Imperfecta in Man: An Examination of Collagen Biosynthesis [J] . Gerald Lancaster, Hy Goldman, Charles R Scriver, Pediatric Research . 1975,第2期

机译：男性的主要遗传成骨不全：胶原蛋白生物合成的检查。
4. Ventricular tissue adaptation associated with collagen deficiency in the osteogenesis imperfecta murine [C] . Sara M.Vaplon, Jeffery H.Omens, Andrew D.McCulloch Bioengineering conference . 1999

机译：与成骨不全鼠的胶原蛋白缺乏相关的心室组织适应
5. Recessive Osteogenesis Imperfecta: Prevalence and Pathophysiology of Collagen Prolyl 3-Hydroxylation Complex Defects [D] . Cabral, Wayne Anthony 2014

机译：隐性成骨不全：胶原蛋白脯氨酰3-羟基化复合物缺陷的患病率和病理生理学
6. Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta. [O] . D W Rowe, J R Shapiro, M Poirier, 1985

机译：患有显性遗传（I型）成骨不全症患者的培养成纤维细胞中的I型胶原蛋白合成减少α1（I）胶原蛋白信使RNA降低。
7. De novo and inherited pathogenic variants in collagen‐related osteogenesis imperfecta [O] . Lidiia Zhytnik, Katre Maasalu, Binh Ho Duy, 2019

机译：脱诺和血糖相关成骨型骨质型植物遗传性变异

De novo and inherited pathogenic variants in collagen‐related osteogenesis imperfecta

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