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Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.
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Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome. Orphanet J Rare Dis. 2015 Sep 30; 10:128.
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PubMed
subject areas
Abnormalities, Multiple
Adolescent
Child
Child, Preschool
Female
Humans
Infant
Male
Mannose-Binding Protein-Associated Serine Proteases
Mutation
Phenotype
Syndrome
Young Adult
authors with profiles
MUSTAFA OZEN