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Items: 4

Select item 21391831.

FUCOSIDOSIS: DEFICIENCY OF ALPHA-L-FUCOSIDASE IN CULTURED SKIN FIBROBLASTS

Klaus Zielke, M. Lois Veath, John S. O'Brien

J Exp Med. 1972 Jul 1; 136(1): 197–199. doi: 10.1084/jem.136.1.197

PMCID:: PMC2139183

Summary PDF–159K

Select item 17155552.

Restriction analysis of the structural α-L-fucosidase gene and its linkage to fucosidosis

John K. Darby, Patrick J. Willems, Phil Nakashima, Jeff Johnsen, Robert E. Ferrell, Ellen M. Wijsman, Daniella S. Gerhard, Nicholas C. Dracopoli, David Housman, Jurgen Henke, Michael L. Fowler, Thomas B. Shows, John S. O'Brien, Luca L. Cavalli-Sforza

Am J Hum Genet. 1988 Nov; 43(5): 749–755.

PMCID:: PMC1715555

Summary Page Browse PDF–1.0M

Select item 17155353.

Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis.

P J Willems, J K Darby, R A DiCioccio, P Nakashima, C Eng, K A Kretz, L L Cavalli-Sforza, E M Shooter, J S O'Brien

Am J Hum Genet. 1988 Nov; 43(5): 756–763.

PMCID:: PMC1715535

Summary Page Browse PDF–1.3M

Select item 10508614.

Fucosidosis: genetic and biochemical analysis of eight cases.

H Cragg, M Williamson, E Young, J O'Brien, J Alhadeff, S Fang-Kircher, E Paschke, B Winchester

J Med Genet. 1997 Feb; 34(2): 105–110. doi: 10.1136/jmg.34.2.105

PMCID:: PMC1050861

Summary Page Browse PDF–1.0M

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