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Mutation Report for: 112kbdel_human-LIPA

112kbdel_human-LIPA
Gene_Locus|human-LIPA
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|chr10:90,947,44991,060,391 (112kb) (hg19). Complete LIPA gene deletion. homozygous
    Kinetic parameters|none


    References:
      Title: Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease
      Potter JE, Petts G, Ghosh A, White FJ, Kinsella JL, Hughes S, Roberts J, Hodgkinson A, Brammeier K and Wynn RF <10 more author(s)>
      Ref: Orphanet J Rare Dis, 16:235, 2021 : PubMed

              




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