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

Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas

9 Mar 2016

Abstract excerpt

BACKGROUND: Multiple osteochondroma (MO) is an autosomal dominant skeletal disorder characterized by the formation of multiple osteochondromas, and exostosin-1 (EXT1) and exostosin-2 (EXT2) are major causative genes in MO. In this study, we evaluated the genetic backgrounds and mutational patterns in Japanese families with MO. RESULTS: We evaluated 112 patients in 71 families with MO. Genomic DNA was isolated...

Read the complete abstract on PubMed

Topics

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

Share to Bone Tumor Diagnosis and Treatments
Share to Musculoskeletal synovial abnormalities and treatments
Share to Osteoarthritis Treatment and Mechanisms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 26961984
DOI: 10.1186/s12863-016-0359-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromasPMID 26961984Read ↗

Mutation screening for the EXT1 and EXT2 genes in Chinese patients with multiple osteochondromas.Semantic proximity Read ↗

Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas.Semantic proximity Read ↗

One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.Semantic proximity Read ↗

Identification of Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas.Semantic proximity Read ↗

Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromasSemantic proximity Read ↗

Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas.Semantic proximity Read ↗

Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas.Semantic proximity Read ↗

Novel mutation of EXT2 identified in a large family with multiple osteochondromas.Semantic proximity Read ↗

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.Semantic proximity Read ↗

Mutation screening of EXT genes in Chinese patients with multiple osteochondromas.Semantic proximity Read ↗

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.Semantic proximity Read ↗

Identification of a Novel EXT Mutation in A Kindred With Hereditary Multiple Exostoses Using Whole-Exome Sequencing and Overview of Mutation SpectrumSemantic proximity Read ↗

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