KEGG   VARIANT: 7096v1
Entry
7096v1                      Variant                                
Name
TLR1 mutation
Type
Loss of function
Gene
TLR1  toll like receptor 1 [KO:K05398]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601194
Network
nt06517  TLR signaling
Disease
H00344  Leprosy
Reference
  Authors
Misch EA, Macdonald M, Ranjit C, Sapkota BR, Wells RD, Siddiqui MR, Kaplan G, Hawn TR
  Title
Human TLR1 deficiency is associated with impaired mycobacterial signaling and protection from leprosy reversal reaction.
  Journal
PLoS Negl Trop Dis 2:e231 (2008)
DOI:10.1371/journal.pntd.0000231
Reference
  Authors
Mazini PS, Alves HV, Reis PG, Lopes AP, Sell AM, Santos-Rosa M, Visentainer JE, Rodrigues-Santos P
  Title
Gene Association with Leprosy: A Review of Published Data.
  Journal
Front Immunol 6:658 (2015)
DOI:10.3389/fimmu.2015.00658
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