Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W
Détails
ID Serval
serval:BIB_2B32349A8D48
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
Titre
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W
Périodique
Journal of Medical Genetics
ISSN
1468-6244
Statut éditorial
Publié
Date de publication
01/2003
Peer-reviewed
Oui
Volume
40
Numéro
1
Pages
65-71
Notes
Letter Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. --- Old month value: Jan
Mots-clé
Adolescent Adult Amino Acid Substitution/genetics Anion Transport Proteins Arginine/*genetics Biological Transport/genetics Carrier Proteins/*genetics/metabolism Child Chromosome Mapping/*methods Female Genes, Recessive/*genetics *Homozygote Humans Male Membrane Transport Proteins Middle Aged Mutation/*genetics Osteochondrodysplasias/*genetics Phenotype Sulfates/metabolism Tryptophan/*genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
21/01/2008 13:50
Dernière modification de la notice
20/08/2019 14:10