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FAM83H Mutations Cause ADHCAI and Alter Intracellular Protein Localization
Mutations in a family with sequence similarity 83 member H (FAM83H) cause autosomal-dominant hypocalcification amelogenesis imperfecta (ADH CAI). All FAM83H ADHCAI-causing mutations terminate translation or shift the reading frame within the specific exon 5 segment that encodes from Ser(287) to Glu(...
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| Publicado no: | J Dent Res |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
SAGE Publications
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6706944/ https://ncbi.nlm.nih.gov/pubmed/21118793 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0022034510389177 |
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