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Article

A de novo G+1-->A mutation at the alpha 2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI type IV proband.

Human mutation - 1 Jan 1993

Filie J D, Orrison B M, Wang Q, Lewis M B, Marini J C

Abstract excerpt

We have investigated the procollagen, collagen, alpha 2(I) mRNA, and DNA of a proband with type IV OI. The proband synthesized two alpha 2(I) chains, one with normal electrophoretic migration and one more rapidly migrating. The fast alpha 2(I) chain was relatively retained within the cell and was present in collagens synthesized in the presence of alpha,alpha'-dipyridyl. The alpha 2(I) cyanogen bromide peptide CB...

Topics

Alleles
Base Sequence
Child, Preschool
Collagen
DNA
Exons
Female
Fibroblasts
Humans
Molecular Sequence Data
Osteogenesis Imperfecta
Point Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA Splicing

RNA, Messenger

Source

Identifiers

PMID: 8257992
DOI: 10.1002/humu.1380020510

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8257992-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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