An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.

The Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited connective tissue disorders characterised by skin hyperextensibility, joint hypermobility, easy bruising, and cutaneous fragility. Nine discrete clinical subtypes have been classified. We have investigated the molecular defect in...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Nicholls, A C, Oliver, J E, McCarron, S, Harrison, J B, Greenspan, D S, Pope, F M
Formato: Artigo
Lenguaje:Inglês
Publicado: 1996
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050789/
https://ncbi.nlm.nih.gov/pubmed/8950675
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares