Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals
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 in Human mutation (1998)
Published in Human mutation (1998)
Get full text
Journal Article
Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals
Ries, S, Büchler, C, Schindler, G, Aslanidis, C, Ameis, D, Gasche, C, Jung, N, Schambach, A, Fehringer, P, Vanier, M T, Belli, D C, Greten, H, Schmitz, G
Published in Human mutation (1998)
Published in Human mutation (1998)
Get full text
Journal Article
Different missense mutations in histidine‐108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals
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 in Human mutation (1998)
Published in Human mutation (1998)
Get full text
Journal Article