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The implication of holocytochrome c synthase mutation in Korean familial hypoplastic amelogenesis imperfecta
OBJECTIVES: This study aimed to comprehensively characterise genetic variants of amelogenesis imperfecta in a single Korean family through whole-exome sequencing and bioinformatics analysis. MATERIAL AND METHODS: Thirty-one individuals of a Korean family, 9 of whom were affected and 22 unaffected by...
Autores principales: | Choi, Hyejin, Lee, Kwanghwan, Kim, Donghyo, Kim, Sanguk, Lee, Jae Hoon |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9203382/ https://www.ncbi.nlm.nih.gov/pubmed/35243551 http://dx.doi.org/10.1007/s00784-022-04413-0 |
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