Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Journal of medical genetics 2003-01, Vol.40 (1), p.65-71
Hauptverfasser:	Ballhausen, D, Bonafé, L, Terhal, P, Unger, S L, Bellus, G, Classen, M, Hamel, B C, Spranger, J, Zabel, B, Cohn, D H, Cole, W G, Hecht, J T, Superti-Furga, A
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age Amino Acid Substitution - genetics Anion Transport Proteins Arginine - genetics Biological Transport - genetics Carrier Proteins - genetics Carrier Proteins - metabolism Child Chromosome Mapping - methods club foot DTDST Female Genes, Recessive - genetics Genotype & phenotype Homozygote Humans Letter to JMG Male Membrane Transport Proteins Middle Aged multiple epiphyseal dysplasia Mutation Mutation - genetics Osteochondrodysplasias - genetics Phenotype Questionnaires Sulfate Transporters Sulfates - metabolism sulphate transporter Tryptophan - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!