ENAM mutations and digenic inheritance

BACKGROUND: ENAM mutations cause autosomal dominant or recessive amelogenesis imperfecta (AI) and show a dose effect: enamel malformations are more severe or only penetrant when both ENAM alleles are defective. METHODS: Whole exome sequences of recruited AI probands were initially screened for mutat...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Genomic Med
Prif Awduron: Zhang, Hong, Hu, Yuanyuan, Seymen, Figen, Koruyucu, Mine, Kasimoglu, Yelda, Wang, Shih‐Kai, Wright, John Timothy, Havel, Michael W., Zhang, Chuhua, Kim, Jung‐Wook, Simmer, James P., Hu, Jan C.‐C.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2019
Pynciau:
Original Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6785452/
https://ncbi.nlm.nih.gov/pubmed/31478359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.928
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