Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

Saved in:

Bibliographic Details
Published in:	Journal of medical genetics Vol. 41; no. 1; pp. 52 - 59
Main Authors:	Jackson, G C, Barker, F S, Jakkula, E, Czarny-Ratajczak, M, Mäkitie, O, Cole, W G, Wright, M J, Smithson, S F, Suri, M, Rogala, P, Mortier, G R, Baldock, C, Wallace, A, Elles, R, Ala-Kokko, L, Briggs, M D
Format:	Journal Article
Language:	English
Published:	London BMJ Publishing Group Ltd 01-01-2004 BMJ
Subjects:	Adolescent Amino Acid Sequence - genetics Biological and medical sciences cartilage Cartilage Oligomeric Matrix Protein Child Child, Preschool chondrodysplasia DNA Mutational Analysis - methods Exons - genetics Extracellular Matrix Proteins - chemistry Extracellular Matrix Proteins - genetics Female General aspects. Genetic counseling genetic disease Glycoproteins - genetics Haplotypes - genetics Humans Male matrilin Matrilin Proteins MED Medical genetics Medical sciences Medicin och hälsovetenskap Models, Molecular Molecular Sequence Data multiple epiphyseal dysplasia Mutation, Missense - genetics mutations Osteochondrodysplasias - genetics Pedigree Peptides - chemistry Peptides - genetics Protein Structure, Tertiary - genetics Human Genetics Multiple Missense mutation Epiphyseal dysplasia Diseases of the osteoarticular system
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Bibliography:	Correspondence to:  Dr M Briggs  Wellcome Trust Centre for Cell-Matrix Research, School of Biological Sciences, University of Manchester, 2.205 Stopford Building, Oxford Road, Manchester M13 9PT, UK; mike.briggs@man.ac.uk href:jmedgenet-41-52.pdf istex:51DD1A8E38CD70583BBD6F739A1D144F35130CE5 local:0410052 ark:/67375/NVC-FW8J318G-6 PMID:14729835 SourceType-Other Sources-1 ObjectType-Article-2 content type line 63 ObjectType-Correspondence-1
ISSN:	0022-2593 1468-6244 1468-6244
DOI:	10.1136/jmg.2003.011429