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...

Descripción completa

Detalles Bibliográficos
Autores principales: Choi, Hyejin, Lee, Kwanghwan, Kim, Donghyo, Kim, Sanguk, Lee, Jae Hoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Original Article
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

Internet

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

Ejemplares similares