New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II Collagenopathies

Collagenopathy is a rare genetic condition characterized by abnormality in either collagen structure or metabolism. Variations in its clinical presentations highlight diversity in the genetic causes and potential existence of concurrent mutations. Through whole exome sequencing (WES) complemented wi...

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Detalles Bibliográficos
Autores principales: Tsai, Meng-Che, Chou, Yen-Yin, Li, Chia-Yi, Wang, Yi-Chieh, Yu, Hui-Wen, Chen, Chia-Hsiang, Chen, Peng-Chieh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8355745/
https://www.ncbi.nlm.nih.gov/pubmed/34394176
http://dx.doi.org/10.3389/fgene.2021.594285

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8355745/
https://www.ncbi.nlm.nih.gov/pubmed/34394176
http://dx.doi.org/10.3389/fgene.2021.594285

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