Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

The Ehlers-Danlos syndrome (EDS) is a heterogeneous connective-tissue disorder of which at least nine subtypes are recognized. Considerable clinical overlap exists between the EDS I and II subtypes, suggesting that both are allelic disorders. Recent evidence based on linkage and transgenic mice stud...

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Hlavní autoři: De Paepe, A, Nuytinck, L, Hausser, I, Anton-Lamprecht, I, Naeyaert, J M
Médium: Artigo
Jazyk:Inglês
Vydáno: 1997
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712501/
https://ncbi.nlm.nih.gov/pubmed/9042913
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