Journal article

A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis

I Voskoboinik, MC Thia, JA Trapani

Blood | AMER SOC HEMATOLOGY | Published : 2005

DOI: 10.1182/blood-2004-12-4935

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76Web of Science
79Scopus

Keywords

Cell Line, Tumor
Autoimmune Lymphoproliferative Syndrome
Patient
Membrane Glycoproteins
Protein Structure, Tertiary
Homozygote
Killer-Cells
Features
Science & Technology
Transfection
Defects
Histiocytosis, Non-Langerhans-Cell
Mutation, Missense
Tubulin
Flounder
Polymorphism, Genetic
Perforin
Life Sciences & Biomedicine
T-Cells
Heterozygote
Mutation
Hematology
Serine
Cytotoxicity
Humans
Dna, Complementary
Gene-Mutations
Mice
Protein Folding
Family Health
Rats
Genotype
Animals
Pore Forming Cytotoxic Proteins
Electrophoresis, Polyacrylamide Gel