Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome

The Malpuech, Michels, Mingarelli, Carnevale (3MC) syndrome is a rare, autosomal recessive genetic- disorder associated with mutations in the MASP1/3, COLEC1,1 or COLEC10 genes. The number of 3MC patients with known mutations in these three genes reported so far remains very small. To date, 16 mutat...

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Detalles Bibliográficos
Autores principales: Gajek, Gabriela, Świerzko, Anna S., Cedzyński, Maciej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7432537/
https://www.ncbi.nlm.nih.gov/pubmed/32751929
http://dx.doi.org/10.3390/ijms21155483

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7432537/
https://www.ncbi.nlm.nih.gov/pubmed/32751929
http://dx.doi.org/10.3390/ijms21155483

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