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Mutation Report for: N161IfsX19_human-LIPA

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
    Comment|Two siblings were compound heterozygous for the missense variant in LIPA exon 8, c.894G>A, (p.Gln298Gln) and a single base pair deletion, c.482del (p.Asn161Ilefs*19)
    Kinetic parameters|none

      Title: Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature
      Rashu EB, Junker AE, Danielsen KV, Dahl E, Hamberg O, Borgwardt L, Christensen VB, Wewer Albrechtsen NJ, Gluud LL
      Ref: World J Clin Cases, 8:1642, 2020 : PubMed


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