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Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report
BACKGROUND: The vascular type of Ehlers–Danlos syndrome is an autosomal dominant connective tissue disorder caused by a mutation in the COL3A1 gene encoding pro-alpha1 chain of type III collagen. The vascular type of Ehlers–Danlos syndrome causes severe fragility of connective tissues with arterial...
Autores principales: | Cortini, Francesca, Marinelli, Barbara, Seia, Manuela, De Giorgio, Barbara, Pesatori, Angela Cecilia, Montano, Nicola, Bassotti, Alessandra |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5088665/ https://www.ncbi.nlm.nih.gov/pubmed/27799058 http://dx.doi.org/10.1186/s13256-016-1087-0 |
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