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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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Publicado no: | Eur J Hum Genet |
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Main Authors: | , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Nature Publishing Group
2017
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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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