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Mutation Report for: 3kbDel_human-DAGLB

3kbDel_human-DAGLB
Gene_Locus|human-DAGLB
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|g.ch7:6,486,383-6,489,136del, which contains the entire exon 1 and 5'-untranslated region of DAGLB gene in a family with two affected siblings (Family 3, AR-075)
    Kinetic parameters|none


    References:
      Title: Deficiency in endocannabinoid synthase DAGLB contributes to early onset Parkinsonism and murine nigral dopaminergic neuron dysfunction
      Liu Z, Yang N, Dong J, Tian W, Chang L, Ma J, Guo J, Tan J, Dong A and Tang B <27 more author(s)>
      Ref: Nat Commun, 13:3490, 2022 : PubMed

              




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    Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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