(Q28301375)

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Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen

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Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen (English)

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main subject

Schmid metaphyseal chondrodysplasia

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I McIntosh

1

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M H Abbott

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2

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C A Francomano

series ordinal

3

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language of work or name

English

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publication date

1995

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published in

Human Mutation

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volume

5

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issue

2

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page(s)

121-5

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cites work

The human collagen X gene. Complete primary translated sequence and chromosomal localization

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https://api.crossref.org/works/10.1002%2FHUMU.1380050204

retrieved

21 January 2018

Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia

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7 January 2021

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Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

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Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations.

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Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition

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Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation

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Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

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7 January 2021

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An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta

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Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus

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Seminars in medicine of the Beth Israel Hospital, Boston. Mutations in collagen genes as a cause of connective-tissue diseases

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7 January 2021

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Genomic organization and full-length cDNA sequence of human collagen X

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7 January 2021

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A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia

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7 January 2021

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Bone disease cracks genetics

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7 January 2021

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A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

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7 January 2021

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Identifiers

DOI

10.1002/HUMU.1380050204

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PubMed publication ID

7749409

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(Q28301375)

Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen

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