Mutational spectrum ofFAM83H: the C-terminal portion is required for tooth enamel calcification
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منابع مشابه
Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification.
Dental enamel forms through the concerted activities of specialized extracellular matrix proteins, including amelogenin, enamelin, MMP20, and KLK4. Defects in the genes encoding these proteins cause non-syndromic inherited enamel malformations collectively designated as amelogenesis imperfecta (AI). These genes, however, account for only about a quarter of all AI cases. Recently we identified m...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2008
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.20789