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Article

Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.

Human genetics - 1 Jul 1995

Bonaventure J, Chaminade F, Maroteaux P

Abstract excerpt

We have used the polymerase chain reaction and single strand conformation polymorphism (SSCP) methods to analyse the COL10A1 gene, which encodes collagen type X, in DNA samples from patients with metaphyseal dysplasia type Schmid (SMCD) and other related forms of metaphyseal dysplasia. Five cases of SMCD were sporadic and three others were familial. Abnormal SSCP profiles were observed in six instances. In two...

Topics

Base Sequence
Chromosome Mapping
Collagen
Humans
Male
Molecular Sequence Data
Mutation
Osteochondrodysplasias
Pedigree
Peptide Fragments
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Single-Stranded Conformational

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Identifiers

PMID: 7607655
DOI: 10.1007/BF00214187

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7607655-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.PMID 7607655Read ↗

Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.Semantic proximity Read ↗

Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen.Semantic proximity Read ↗

Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.Semantic proximity Read ↗

Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.Semantic proximity Read ↗

Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.Semantic proximity Read ↗

Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.Semantic proximity Read ↗

A novel COL10A1 mutation in a Chinese pedigree with Schmid type metaphyseal chondrodysplasia.Semantic proximity Read ↗

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.Semantic proximity Read ↗

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.Semantic proximity Read ↗

Schmid's metaphyseal chondrodysplasia mutations interfere with folding of the C-terminal domain of human collagen X expressed in Escherichia coli.Semantic proximity Read ↗

Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia.Semantic proximity Read ↗

Mutations in collagen genes resulting in metaphyseal and epiphyseal dysplasias.Semantic proximity Read ↗

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