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Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome–Related Phenotype

Null alleles for the COL5A1 gene and missense mutations for COL5A1 or the COL5A2 gene underlie cases of classic Ehlers-Danlos syndrome, characterized by fragile, hyperextensible skin and hypermobile joints. However, no classic Ehlers-Danlos syndrome case has yet been associated with COL5A2 null alle...

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Pubblicato in:Am J Pathol
Autori principali: Park, Arick C., Phillips, Charlotte L., Pfeiffer, Ferris M., Roenneburg, Drew A., Kernien, John F., Adams, Sheila M., Davidson, Jeffrey M., Birk, David E., Greenspan, Daniel S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Investigative Pathology 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4483463/
https://ncbi.nlm.nih.gov/pubmed/25987251
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajpath.2015.03.022
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