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AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout‐NLS‐lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue‐specificity

BACKGROUND: Ameloblastin (AMBN) is a secreted matrix protein that is critical for the formation of dental enamel and is enamel‐specific with respect to its essential functions. Biallelic AMBN defects cause non‐syndromic autosomal recessive amelogenesis imperfecta. Homozygous Ambn mutant mice express...

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Publicado en:Mol Genet Genomic Med
Autores principales: Liang, Tian, Hu, Yuanyuan, Smith, Charles E., Richardson, Amelia S, Zhang, Hong, Yang, Jie, Lin, Brent, Wang, Shih‐Kai, Kim, Jung‐Wook, Chun, Yong‐Hee, Simmer, James P., Hu, Jan C.‐C.
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2019
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6732285/
https://ncbi.nlm.nih.gov/pubmed/31402633
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.929
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