An intron mutation in the human alpha 1(I) collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II.

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Article

An intron mutation in the human alpha 1(I) collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II.

The Journal of biological chemistry - 5 Feb 1990

Bonadio J, Ramirez F, Barr M

Abstract excerpt

This study describes a homozygous, G----A transition at the moderately conserved +5 position within the splice donor site of intron 14 in the human alpha 1(I) collagen gene. The mutation reduced the efficiency of normal splice-site selection since the exon upstream of the mutation was spliced alternatively. Moreover, the extent of alternative splicing was sensitive to the temperature at which the mutant cells...

Topics

Adenine
Base Sequence
Collagen
Cyanogen Bromide
Genes
Guanine
Humans
Introns
Molecular Sequence Data
Mutation
Oligonucleotide Probes
Osteogenesis Imperfecta

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Peptide Mapping

Polymerase Chain Reaction

RNA Precursors

RNA Splicing

Reference Values

Restriction Mapping

Source

Open in PubMed

Identifiers

PMID: 2298750

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2298750-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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