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Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency

The hereditary blistering disease junctional epidermolysis bullosa (JEB) is always accompanied by structural enamel abnormalities of primary and secondary dentition, characterized as amelogenesis imperfecta. Autosomal recessive mutations in LAMA3, LAMB3 and LAMC2 encoding the heterotrimer laminin 33...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Gostyńska, Katarzyna B, Yan Yuen, Wing, Pasmooij, Anna Maria Gerdina, Stellingsma, Cornelius, Pas, Hendri H, Lemmink, Henny, Jonkman, Marcel F
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5159771/
https://ncbi.nlm.nih.gov/pubmed/27827380
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.136
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