Identification of novel ACAN mutations in two Chinese families and genotype–phenotype correlation in patients with 74 pathogenic ACAN variations

BACKGROUND: ACAN (OMIM 155760) is located on chromosome 15q26 and encodes the production of aggrecan. Aggrecan is a large chondroitin sulfate proteoglycan with a molecular weight of 254 kDa and contains 2530 amino acids. It is a critical structural component of the extracellular matrix of cartilage,...

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Detalles Bibliográficos
Autores principales: Wei, Ming, Ying, Yanqin, Li, Zhuxi, Weng, Ying, Luo, Xiaoping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606199/
https://www.ncbi.nlm.nih.gov/pubmed/34605228
http://dx.doi.org/10.1002/mgg3.1823

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606199/
https://www.ncbi.nlm.nih.gov/pubmed/34605228
http://dx.doi.org/10.1002/mgg3.1823

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