Nucleic Acids Res. 1998 Jan 1;26(1):253-5.

The Human Collagen Mutation Database 1998.

Source

Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK. ray@le.ac.uk

Abstract

The collagens are a large and diverse family of proteins which are found in the extracellular matrix. In common with one another, the 19 known collagen types have triple-helical domains of variable length but they differ with respect to their overall size and the nature and location of their globular domains. Collagen mutations lead to heritable defects of connective tissues and mutation data for collagen types I and III are presented here. The mutation data are accessible on the world wide web at http://www.le.ac.uk/genetics/collagen/

PMID:: 9399846; [PubMed - indexed for MEDLINE]
PMCID:: PMC147171

Free PMC Article

MeSH Terms, Substances

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Other Literature Sources

Supplemental Content

Related citations

The human type I collagen mutation database. [Nucleic Acids Res. 1997]
The human type I collagen mutation database.
Dalgleish R. Nucleic Acids Res. 1997 Jan 1; 25(1):181-7.
The Human PAX6 Mutation Database. [Nucleic Acids Res. 1998]
The Human PAX6 Mutation Database.
Brown A, McKie M, van Heyningen V, Prosser J. Nucleic Acids Res. 1998 Jan 1; 26(1):259-64.
Database of mutations within the adenovirus 5 E1A oncogene. [Nucleic Acids Res. 1998]
Database of mutations within the adenovirus 5 E1A oncogene.
Mymryk JS. Nucleic Acids Res. 1998 Jan 1; 26(1):292-4.
Review The collagen superfamily. [Int Arch Allergy Immunol. 1995]
Review The collagen superfamily.
Brown JC, Timpl R. Int Arch Allergy Immunol. 1995 Aug; 107(4):484-90.
Review Folding defects in fibrillar collagens. [Philos Trans R Soc Lond B Biol...]
Review Folding defects in fibrillar collagens.
Byers PH. Philos Trans R Soc Lond B Biol Sci. 2001 Feb 28; 356(1406):151-7; discussion 157-8.

See reviews... See all...

Cited by 16 PubMed Central articles

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. [PLoS Genet. 2011]
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, et al. PLoS Genet. 2011 Sep; 7(9):e1002278. Epub 2011 Sep 8.
Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta. [J Osteoporos. 2011]
Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta.
Ben Amor IM, Glorieux FH, Rauch F. J Osteoporos. 2011; 2011:540178. Epub 2011 Sep 6.
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. [Eur J Hum Genet. 2012]
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.
van Dijk FS, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, Symoens S, Sistermans EA, Pals G. Eur J Hum Genet. 2012 Jan; 20(1):11-9. Epub 2011 Aug 10.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

The Human Collagen Mutation Database 1998.
The Human Collagen Mutation Database 1998.
Nucleic Acids Res. 1998 Jan 1 ;26(1):253-5.

PubMed
The human type I collagen mutation database.
The human type I collagen mutation database.
Nucleic Acids Res. 1997 Jan 1 ;25(1):181-7.

PubMed
The environment and skin aging.
The environment and skin aging.
Clin Dermatol. 1998 Jan-Feb ;16(1):129-39.

PubMed
Dietary fish oil as a photoprotective agent in hydroa vacciniforme.
Dietary fish oil as a photoprotective agent in hydroa vacciniforme.
Br J Dermatol. 1998 Jan ;138(1):173-8.

PubMed
Essentials of Glycobiology
Essentials of Glycobiology

Bookshelf

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Display Settings:

Send to: