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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書誌詳細
出版年:Mol Genet Genomic Med
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2019
主題:
Original Articles
オンライン･アクセス: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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