Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta-Reference-Cited by-同舟云学术

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Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta

Published:2016-09-20 Issue:3 Volume:160 Page:442-447
ISSN:1213-8118
Container-title:Biomedical Papers
language:
Short-container-title:BIOMED PAP

Author:

Hruskova Lucie,Fijalkowski Igor,Van Hul Wim,Marik Ivo,Mortier Geert,Martasek Pavel,Mazura Ivan

Publisher

Palacky University Olomouc

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

http://biomed.papers.upol.cz/doi/10.5507/bp.2016.022.pdf

Reference34 articles.

1. New perspectives on osteogenesis imperfecta

2. Endotext;Inc

3. The human type I collagen mutation database

4. Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations

Cited by 9 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. Osteogenesis Imperfecta: One Disease, Two or More Faces: A Case Report;Case Reports in Clinical Medicine;2023

2. Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta;Genes;2022-09-02

3. Clinical and Genetic Features of Chinese Adult Patients With Chronic Non-Bacterial Osteomyelitis: A Single Center Report;Frontiers in Immunology;2022-03-29

4. Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome;Current Issues in Molecular Biology;2022-03-25

5. Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta – Current Insights Into Collagen Type I Lethal Regions;Frontiers in Genetics;2021-07-09

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