Hybrid minigene splicing assay verifies the pathogenicity of a novel splice site variant in the COL1A1 gene of a chinese patient with osteogenesis imperfecta type I-Reference-Cited by-同舟云学术

Hybrid minigene splicing assay verifies the pathogenicity of a novel splice site variant in the COL1A1 gene of a chinese patient with osteogenesis imperfecta type I

Published:2019-12 Issue:12 Volume:50 Page:2215-2219
ISSN:0020-1383
Container-title:Injury
language:en
Short-container-title:Injury

Author:

Lin Yuxiang,Li Xiaoli,Huang Xinghua,Zheng Dezhu,Liu Yichu,Lan Fenghua,Wang Zhihong^ORCID

Funder

Natural Science Foundation of Fujian Province

Publisher

Elsevier BV

Subject

Orthopedics and Sports Medicine,Emergency Medicine

Reference23 articles.

1. Teriparatide treatment in adult patients with osteogenesis imperfecta type I;Gatti;Calcif. Tissue Int.,2013

2. Update on the evaluation and treatment of osteogenesis imperfecta;Harrington;Pediatr. Clin. North Am.,2014

3. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment;Van Dijk;Am. J. Med. Genet. A,2014

4. New perspectives on osteogenesis imperfecta;Forlino;Nat. Rev. Endocrinol.,2011

5. Substitutions for arginine at position 780 in triple helical domain of the alpha1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta;Makareeva;PLoS ONE,2018

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1. COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report;Frontiers in Surgery;2022-09-15

2. Understanding Musculoskeletal Disorders Through Next-Generation Sequencing;JBJS Reviews;2022-04

3. A novel variant of the IFITM5 gene within the 5′‐UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum;Molecular Genetics & Genomic Medicine;2020-05-08