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Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)
Sandro Muntoni, Heiko Wiebusch, Harald Funke, Emilio Ros, Udo Seedorf, Gerd AssmannVolume:
95
Language:
english
Pages:
4
DOI:
10.1007/bf00223858
Date:
May, 1995
File:
PDF, 438 KB
english, 1995