A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations
Details
Serval ID
serval:BIB_90B153667C04
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations
Journal
Journal of Medical Genetics
ISSN
1468-6244
Publication state
Published
Issued date
12/2003
Peer-reviewed
Oui
Volume
40
Number
12
Pages
942-8
Notes
Letter Research Support, Non-U.S. Gov't --- Old month value: Dec
Keywords
Amino Acid Substitution Bone and Bones/pathology/radiography Child Collagen Type IX/genetics DNA Mutational Analysis Extracellular Matrix Proteins/*genetics Female *Genetic Predisposition to Disease Glycoproteins/*genetics Humans Magnetic Resonance Imaging Male Muscle Weakness/diagnosis/*genetics *Mutation Osteochondrodysplasias/*diagnosis/*genetics/pathology Pedigree
Pubmed
Web of science
Create date
21/01/2008 13:50
Last modification date
20/08/2019 15:54