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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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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2009
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| Assuntos: | |
| Acesso em linha: | 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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