A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations

Détails

Demande d'une copieDemande d'une copie
ID Serval
serval:BIB_90B153667C04
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
UNIL/CHUV
Titre
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations
Périodique
Journal of Medical Genetics
Auteur⸱e⸱s
Jakkula  E., Lohiniva  J., Capone  A., Bonafe  L., Marti  M., Schuster  V., Giedion  A., Eich  G., Boltshauser  E., Ala-Kokko  L., Superti-Furga  A.
ISSN
1468-6244
Statut éditorial
Publié
Date de publication
12/2003
Peer-reviewed
Oui
Volume
40
Numéro
12
Pages
942-8
Notes
Letter Research Support, Non-U.S. Gov't --- Old month value: Dec
Mots-clé
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
OAI-PMH
oai:serval.unil.ch:BIB_90B153667C04
DOI
10.1136/jmg.40.12.942
Pubmed
14684695
Web of science
000187402100014
Création de la notice
21/01/2008 13:50
Dernière modification de la notice
20/08/2019 15:54
Données d'usage