Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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.

Injury - 1 Dec 2019

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

Abstract excerpt

BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic bone disease associated with brittle bones and fractures. Among all known types, OI type I is the most common type and characterized by increased bone fragility, low bone mass, distinctly blue-gray sclera, and susceptibility to conductive hearing loss beginning in adolescence. Mutations in genes encoding type I collagen (COL1A1 and COL1A2) contribute to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Collagen Type I
Share to Collagen Type I, alpha 1 Chain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fractures, Bone

Share to Medical History Taking

Share to Osteogenesis Imperfecta

Share to Osteoporosis

Share to Recurrence

Share to RNA Splice Sites

Source

Identifiers

PMID: 31653500
DOI: 10.1016/j.injury.2019.10.033

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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.PMID 31653500Read ↗

A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.Semantic proximity Read ↗

A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta.Semantic proximity Read ↗

Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case report and review of the literature.Semantic proximity Read ↗

A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.Semantic proximity Read ↗

A novel mutation combining with rs66612022 in a Chinese pedigree suggests a new pathogenesis to osteogenesis imperfecta via whole genome sequencing.Semantic proximity Read ↗

Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.Semantic proximity Read ↗

Phenotypic Spectrum and Molecular Basis in a Chinese Cohort of Osteogenesis Imperfecta With Mutations in Type I CollagenSemantic proximity Read ↗

Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report.Semantic proximity Read ↗

Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.Semantic proximity Read ↗

Application of next‑generation sequencing for molecular diagnosis in a large family with osteogenesis imperfecta type I.Semantic proximity Read ↗

A novel de novo mutation in COL1A1 leading to osteogenesis imperfecta confirmed by zebrafish model.Semantic proximity Read ↗

New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II CollagenopathiesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.