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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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Publicado no: | Int J Mol Sci |
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Main Authors: | , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
MDPI
2020
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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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