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

Mutation analysis of coding sequences for type I procollagen in individuals with low bone density.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jun 1994

Spotila L D, Colige A, Sereda L, Constantinou-Deltas C D, Whyte M P, Riggs B L, Shaker J L, Spector T D, Hume E, Olsen N

Abstract excerpt

Mutations in one of the two genes encoding type I procollagen (COL1A1 and COL1A2) are frequently the cause of osteogenesis imperfecta (OI), a disorder characterized by brittle bones. Here we tested whether patients with low bone density also have mutations in these genes. The 26 patients studied had no apparent metabolic bone disease, but most had a positive family history of osteopenia or osteoporosis. Although...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Aged

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Base Sequence

Share to Collagen

Share to Molecular Sequence Data

Share to Mutation

Share to Nucleic Acid Hybridization

Source

Identifiers

PMID: 8079666
DOI: 10.1002/jbmr.5650090618

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation analysis of coding sequences for type I procollagen in individuals with low bone density.PMID 8079666Read ↗

Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.Semantic proximity Read ↗

Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.Semantic proximity Read ↗

Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.Semantic proximity Read ↗

Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA.Semantic proximity Read ↗

Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta.Semantic proximity Read ↗

Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.Semantic proximity Read ↗

Mutations in type I procollagen genes that cause osteogenesis imperfecta.Semantic proximity Read ↗

Molecular heterogeneity in osteogenesis imperfecta type I.Semantic proximity Read ↗

Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.Semantic proximity Read ↗

Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.Semantic proximity Read ↗

Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients.Semantic proximity Read ↗

Studies of type I collagen in osteogenesis imperfecta.Semantic proximity Read ↗

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