Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta.

doi:10.1002/(SICI)1098-1004(1996)7:3<219::AID-HUMU6>3.0.CO;2-5

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Article

Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta.

Human mutation - 1 Jan 1996

Nicholls A C, Oliver J, McCarron S, Winter G B, Pope F M

Abstract excerpt

An eight-year-old boy was referred for dental assessment of dentinogenesis imperfecta, a full clinical examination also revealed joint hypermobility and some features of mild osteogenesis imperfecta although he had suffered few fractures. Analysis of the collagens produced by both gingival and sk...

Topics

Alternative Splicing
Amino Acid Sequence
Base Sequence
Cells, Cultured
Child
Collagen
Dentinogenesis Imperfecta
Electrophoresis, Polyacrylamide Gel
Exons
Gingiva
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mutation

Osteogenesis Imperfecta

Pedigree

Peptide Mapping

Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 8829655
DOI: 10.1002/(SICI)1098-1004(1996)7:3<219::AID-HUMU6>3.0.CO;2-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8829655-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta.PMID 8829655Read ↗

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