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FAM83H Mutations in Families with Autosomal-Dominant Hypocalcified Amelogenesis Imperfecta
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Kim, Jung-Wook | - |
dc.contributor.author | Lee, Sook-Kyung | - |
dc.contributor.author | Lee, Zang Hee | - |
dc.contributor.author | Park, Joo-Cheol | - |
dc.contributor.author | Lee, Kyung-Eun | - |
dc.contributor.author | Lee, Myoung-Hwa | - |
dc.contributor.author | Park, Jong-Tae | - |
dc.contributor.author | Seo, Byoung-Moo | - |
dc.contributor.author | Hu, Jan C.-C. | - |
dc.contributor.author | Simmer, James P. | - |
dc.date.accessioned | 2011-10-20T04:58:22Z | - |
dc.date.available | 2011-10-20T04:58:22Z | - |
dc.date.issued | 2008-02 | - |
dc.identifier.citation | Am. J. Hum. Genet. 82,489–494 | en |
dc.identifier.issn | 0002-9297 | - |
dc.identifier.uri | https://hdl.handle.net/10371/74380 | - |
dc.description.abstract | Amelogenesis imperfecta (AI) is a collection of diverse inherited disorders featuring dental-enamel defects in the absence of significant
nondental symptoms. AI phenotypes vary and are categorized as hypoplastic, hypocalcified, and hypomaturation types. Phenotypic specificity to enamel has focused research on genes encoding enamel-matrix proteins. We studied two families with autosomal-dominant hypocalcified AI and have identified nonsense mutations (R325X and Q398X) in the FAM83H gene on chromosome 8q24.3. The mutations perfectly cosegregate with the disease phenotype and demonstrate that FAM83H is required for proper dental-enamel calcification. | en |
dc.description.sponsorship | This work was supported by a grant from the Korea Health 21 Research and Development (R&D) Project (Ministry of Health and Welfare, Republic of Korea) (A060010) and in part by the Korea Science and Engineering Foundation (KOSEF) through the Biotechnology R&D program (2006-05229). | en |
dc.language.iso | en | en |
dc.publisher | Elsevier | en |
dc.title | FAM83H Mutations in Families with Autosomal-Dominant Hypocalcified Amelogenesis Imperfecta | en |
dc.type | Article | en |
dc.contributor.AlternativeAuthor | 김정욱 | - |
dc.contributor.AlternativeAuthor | 이숙경 | - |
dc.contributor.AlternativeAuthor | 이장희 | - |
dc.contributor.AlternativeAuthor | 박주철 | - |
dc.contributor.AlternativeAuthor | 이경은 | - |
dc.contributor.AlternativeAuthor | 이명화 | - |
dc.contributor.AlternativeAuthor | 박종태 | - |
dc.contributor.AlternativeAuthor | 서병무 | - |
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