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Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators.
Rhiannon Parkhouse
,
Joseph P Boyle
,
Tom P Monie
OAI: oai:www.repository.cam.ac.uk:1810/245633
Published by:
Abstract
Blau syndrome
innate immunity
NACHT
Nucleotide oligomerisation domain containing 2
Nucleotide-binding
leucine-rich repeat containing receptor
SINGLE NUCLEOTIDE POLYMORPHISMS
Amino Acid Sequence
Amino Acid Substitution
Arthritis
Cranial Nerve Diseases
Genetic Association Studies
Genetic Predisposition to Disease
HEK293 Cells
Humans
Hydrolysis
Models
Molecular
Molecular Sequence Data
NF-kappa B
Nod1 Signaling Adaptor Protein
Nod2 Signaling Adaptor Protein
Polymorphism
Single Nucleotide
Protein Structure
Secondary
Protein Structure
Tertiary
Protein Transport
Sarcoidosis
Signal Transduction
Synovitis
Uveitis