Associated Papers
Predicting the functional consequences of genetic variants in co-stimulatory ligand B7-1 using in-silico approaches.
Mathur R et al.
Human Immunology, 2021
PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?
de Luna N et al.
Neuromuscular Disorders : Nmd, 2014
Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer.
Chia J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.
Notarangelo LD et al.
Human Mutation, 2001
Select a paper to view details