Wird geladen...

Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.

A novel heterozygous mutation of the COL3A1 gene that encodes the alpha 1(III) chains of type III collagen was identified in a family with the acrogeric form of Ehlers-Danlos syndrome type IV (EDS-IV). Cultured dermal fibroblasts produced normal and shortened alpha 1(III) chains. The triple helix of...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Chiodo, A A, Sillence, D O, Cole, W G, Bateman, J F
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1995
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1136092/
https://ncbi.nlm.nih.gov/pubmed/7487954
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!