Cargando...

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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Nicholls, A C, Oliver, J E, McCarron, S, Harrison, J B, Greenspan, D S, Pope, F M
Formato: Artigo
Idioma:Inglês
Publicado: 1996
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050789/
https://ncbi.nlm.nih.gov/pubmed/8950675
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!