Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

Mandibuloacral dysplasia (MAD; OMIM 248370) is a rare, genetically and phenotypically heterogeneous, autosomal recessive disorder characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acro-osteolysis, cutaneous atrophy and lipodystrophy. A homozygous missense mu...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human molecular genetics 2003-08, Vol.12 (16), p.1995-2001
Hauptverfasser:	Agarwal, Anil K., Fryns, Jean-Pierre, Auchus, Richard J., Garg, Abhimanyu
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - etiology Abnormalities, Multiple - genetics Acro-Osteolysis - genetics Atrophy - genetics Biological and medical sciences Classical genetics, quantitative genetics, hybrids Clavicle - abnormalities Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Human Humans Lamin Type A - genetics Lipodystrophy - genetics Lipoproteins - genetics Lipoproteins - metabolism Mandible - abnormalities Membrane Proteins - genetics Membrane Proteins - metabolism Metalloendopeptidases - genetics Metalloproteases - genetics Metalloproteases - metabolism Molecular and cellular biology Mutation, Missense Nuclear Proteins - metabolism Pedigree Phenotype Protein Precursors - metabolism Saccharomyces cerevisiae Proteins - genetics Sequence Analysis
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!