A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations

Abstract Background Jalili syndrome (JS) is a rare cone‐rod dystrophy (CRD) associated with amelogenesis imperfecta (AI). The first clinical presentation of JS patients was published in 1988 by Jalili and Smith. Pathogenic mutations in the Cyclin and CBS Domain Divalent Metal Cation Transport Mediat...

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主要な著者:	Asia Parveen, Muhammad U. Mirza, Michiel Vanmeert, Javed Akhtar, Hina Bashir, Saadullah Khan, Saqib Shehzad, Matheus Froeyen, Wasim Ahmed, Muhammad Ansar, Naveed Wasif
フォーマット:	Artigo
言語:	Inglês
出版事項:	Wiley 2019-09-01
シリーズ:	Molecular Genetics & Genomic Medicine
主題:	CBS domain CNNM4 Jalili Syndrome MD Simulations missense variant
オンライン･アクセス:	https://doi.org/10.1002/mgg3.902
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