Fam83h null mice support a neomorphic mechanism for human ADHCAI
نویسندگان
چکیده
منابع مشابه
Fam83h null mice support a neomorphic mechanism for human ADHCAI.
Truncation mutations in FAM83H (family with sequence similarity 83, member H) cause autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI), but little is known about FAM83H function and the pathogenesis of ADHCAI. We recruited three ADHCAI families and identified two novel (p.Gln457*; p.Lys639*) and one previously documented (p.Q452*) disease-causing FAM83H mutations. We generated an...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2015
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.178