Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice-Reference-Cited by-同舟云学术

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Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice

Published:2016-06 Issue:1 Volume:6 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Árvai Kristóf,Horváth Péter,Balla Bernadett,Tobiás Bálint,Kató Karina,Kirschner Gyöngyi,Klujber Valéria,Lakatos Péter,Kósa János P.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep28417.pdf

Reference27 articles.

1. Von Bubnoff, A. Next-generation sequencing: the race is on. Cell 132, 721–3 (2008).

2. Metzker, M. L. Applications of next-generation sequencing sequencing technologies - the next generation. Nature Reviews Genetics 11, 31–46 (2010).

3. Sanger, F., Nicklen, S. & Coulson, A. R. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74, 5463–7 (1977).

4. Rauch, F. & Glorieux, F. H. Osteogenesis imperfecta. Lancet 363, 1377–85 (2004).

5. Baldridge, D. et al. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Human Mutation 29, 1435–1442 (2008).

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The structural basis for the collagen processing by human P3H1/CRTAP/PPIB ternary complex;Nature Communications;2024-09-08

2. Genotypic Characterization of a Chinese Family with Osteogenesis Imperfecta and Generation of Disease-Specific Induced Pluripotent Stem Cells;Frontiers in Bioscience-Landmark;2023-12-12

3. Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2;F1000Research;2023-10-30

4. Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes;Frontiers in Endocrinology;2023-10-20

5. Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2;F1000Research;2023-10-09

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