• Media type: E-Article
  • Title: Different missense mutations in histidine‐108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals
  • Contributor: Ries, Stefan; Büchler, Christa; Schindler, Gisela; Aslanidis, Charalampos; Ameis, Detlev; Gasche, Christoph; Jung, Nikola; Schambach, Axel; Fehringer, Petra; Vanier, Marie T.; Belli, Dominique C.; Greten, Heiner; Schmitz, Gerd
  • Published: Hindawi Limited, 1998
  • Published in: Human Mutation, 12 (1998) 1, Seite 44-51
  • Language: Not determined
  • DOI: 10.1002/(sici)1098-1004(1998)12:1<44::aid-humu7>3.3.co;2-f
  • ISSN: 1059-7794; 1098-1004
  • Keywords: Genetics (clinical) ; Genetics
  • Origination:
  • Footnote: