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

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Bibliographic Details
Published in:	Journal of medical genetics 2004-01, Vol.41 (1), p.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:	Article
Language:	English
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
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