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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)

✍ Scribed by Sandro Muntoni; Heiko Wiebusch; Harald Funke; Emilio Ros; Udo Seedorf; Gerd Assmann


Publisher
Springer
Year
1995
Tongue
English
Weight
438 KB
Volume
95
Category
Article
ISSN
0340-6717

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