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Article

Haplotype analysis of collagen type I genes in the general population and in osteogenesis imperfecta families.

American journal of medical genetics - 15 Jan 1993

Mottes M, Sangalli A, Pignatti P F

Abstract excerpt

The allele frequencies of 2 new polymorphic markers of collagen type I proalpha 1 (COL1A1) and proalpha 2 (COL1A2) genes were determined in a random sample of chromosomes by polymerase chain reaction. The minor allele frequencies were 0.27 for COL1A1/+88Mn1I, and 0.39 for COL1A2/1446 PvuII RFLPs,...

Topics

Collagen
Female
Gene Frequency
Genetic Markers
Haplotypes
Humans
Male
Mutation
Osteogenesis Imperfecta
Pedigree
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 8096115
DOI: 10.1002/ajmg.1320450213

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8096115-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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