Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta.

doi:10.1002/ajmg.1320450216

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Article

Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta.

American journal of medical genetics - 15 Jan 1993

Bateman J F, Lamande S R, Hannagan M, Moeller I, Dahl H H, Cole W G

Abstract excerpt

We discuss the definition of mutations in osteogenesis imperfecta (OI) using a chemical cleavage method for detecting mismatched bases in patient mRNA: control cDNA heteroduplexes. The method is based on the increased chemical modification of cytosines (Cs) by hydroxylamine and thymines (Ts) by o...

Topics

Cells, Cultured
Collagen
DNA Probes
Female
Fibroblasts
Humans
Mutation
Nucleic Acid Heteroduplexes
Osteogenesis Imperfecta
Polymerase Chain Reaction
Polymorphism, Genetic
Pregnancy
Prenatal Diagnosis
RNA, Messenger
Sequence Analysis, RNA

Source

Open in PubMed

Identifiers

PMID: 8456808
DOI: 10.1002/ajmg.1320450216

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8456808-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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