Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita.

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Article

Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita.

The Journal of rheumatology. Supplement - 1 Feb 1995

Chan D, Rogers J F, Bateman J F, Cole W G

Abstract excerpt

A child with typical spondyloepiphyseal dysplasia congenita had a recurrent, heterozygous substitution of arginine 789 by cysteine in the triple helical domain of alpha 1 (II) chains of type II collagen. The amino substitution was due to the transition of cytosine 2913 to thymine in exon 41 of th...

Topics

Amino Acid Sequence
Arginine
Base Sequence
Child, Preschool
Collagen
Cysteine
Humans
Molecular Sequence Data
Mutation
Osteochondrodysplasias
Polymerase Chain Reaction
Procollagen
Restriction Mapping

Source

Open in PubMed

Identifiers

PMID: 7752132

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7752132-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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