Condition: Mannose-Binding Protein Deficiency
rs5030737 in
MBL2 gene and
Mannose-Binding Protein Deficiency
PMID 22323042 2012 Defective activities, but not secretions, resulting from gene point mutations of human mannan-binding lectin.
PMID 7707811 1995 Mannose binding protein gene mutations associated with unusual and severe infections in adults.
PMID 8206524 1994 A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein.
PMID 10071515 1999 Mannose-binding lectin (MBL) deficiency. Variant alleles in a midwestern population of the United States.