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Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.
- Source :
-
Journal of medical genetics [J Med Genet] 2004 Jan; Vol. 41 (1), pp. 52-9. - Publication Year :
- 2004
- Subjects :
- Adolescent
Amino Acid Sequence genetics
Cartilage Oligomeric Matrix Protein
Child
Child, Preschool
DNA Mutational Analysis methods
Exons genetics
Extracellular Matrix Proteins chemistry
Female
Glycoproteins genetics
Haplotypes genetics
Humans
Male
Matrilin Proteins
Models, Molecular
Molecular Sequence Data
Pedigree
Peptides chemistry
Peptides genetics
Protein Structure, Tertiary genetics
Extracellular Matrix Proteins genetics
Mutation, Missense genetics
Osteochondrodysplasias genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1468-6244
- Volume :
- 41
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Journal of medical genetics
- Publication Type :
- Report
- Accession number :
- 14729835
- Full Text :
- https://doi.org/10.1136/jmg.2003.011429