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Article

Mutation screening by a combination of biotin-SSCP and direct sequencing.

Human genetics - 1 Mar 1994

Virdi A S, Loughlin J A, Irven C M, Goodship J, Sykes B C

Abstract excerpt

We have developed a mutation detection strategy that combines single strand conformational polymorphism (SSCP) analysis of one strand of a double-stranded amplification product with direct sequencing of the other. Using this strategy, which we find economical of both time and resources, we have identified a G to A transition, which substitutes a serine for glycine residue at position 862 in the major helix of the...

Topics

Amino Acid Sequence
Base Sequence
Biotin
Collagen
DNA
Female
Genetic Testing
Humans
Male
Molecular Sequence Data
Mutation
Nucleic Acid Conformation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Osteogenesis Imperfecta

Polymerase Chain Reaction

Polymorphism, Genetic

Prenatal Diagnosis

Sequence Analysis, DNA

Source

Identifiers

PMID: 8125479
DOI: 10.1007/BF00212024

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8125479-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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