Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome

So far, mutations in the human COL3A1 gene have been associated with the predominantly inherited Ehlers–Danlos syndrome (EDS), vascular type. Genotype–phenotype correlation perspectives collapsed, as haploinsufficiency, which was long suggested to confer a milder or unrecognized phenotype, was repor...

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Autores principales: Plancke, Aurélie, Holder-Espinasse, Muriel, Rigau, Valérie, Manouvrier, Sylvie, Claustres, Mireille, Van Kien, Philippe Khau
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2009
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986673/
https://ncbi.nlm.nih.gov/pubmed/19455184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.76
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