A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR.

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Article

A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR.

American journal of human genetics - 1 Jun 1991

Zhuang J P, Constantinou C D, Ganguly A, Prockop D J

Abstract excerpt

Skin fibroblasts from a proband with a lethal variant of osteogenesis imperfecta synthesized both apparently normal type I procollagen and a type I procollagen that had slow electrophoretic mobility because of posttranslational overmodifications. The thermal unfolding of the collagen molecules as...

Topics

Adult
Aspartic Acid
Base Sequence
Carbodiimides
Cells, Cultured
Female
Fetal Death
Genes, Lethal
Glycine
Humans
Infant, Newborn
Infant, Premature
Male
Molecular Sequence Data

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Mutation

Nucleic Acid Heteroduplexes

Nucleic Acid Hybridization

Osteogenesis Imperfecta

Source

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Identifiers

PMID: 2035536
PMCID: PMC1683081

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2035536-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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