Associated Papers
Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency.
Vincent D et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection.
Gavriilaki E et al.
Current Issues in Molecular Biology, 2022
35877417 (PubMed )
Supplement: cimb-44-00193-s001.zip › cimb-1755355-supplementary.xlsx › AP_and_LP_variant_comparisons
Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches.
Granata P et al.
Frontiers in Genetics, 2022
A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.
Yuan Y et al.
Frontiers in Genetics, 2022
36159980 (PubMed )
Supplement: Table1.XLSX › SNP
MASP2 gene polymorphism is associated with susceptibility to hepatitis C virus infection.
Tulio S et al.
Human Immunology, 2011
Multiplex sequence-specific polymerase chain reaction reveals new MASP2 haplotypes associated with MASP-2 and MAp19 serum levels.
Boldt AB et al.
Human Immunology, 2011
Lack of association between polymorphisms of MASP2 and susceptibility to SARS coronavirus infection.
Wang Y et al.
Bmc Infectious Diseases, 2009
Polymorphisms in mannan-binding lectin (MBL)-associated serine protease 2 affect stability, binding to MBL, and enzymatic activity.
Thiel S et al.
Journal of Immunology (baltimore, Md. : 1950), 2009
Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms.
Thiel S et al.
Genes and Immunity, 2007
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