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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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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Gajek, Gabriela, Świerzko, Anna S., Cedzyński, Maciej
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7432537/
https://ncbi.nlm.nih.gov/pubmed/32751929
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21155483
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