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Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter.

Abstract:

Leukocyte adhesion deficiency II (LAD II) is a rare congenital disease caused by defective fucosylation leading to immuno-deficiency and psychomotor retardation. We have previously identified the genetic defect of LAD II in a patient whose Golgi GDP-fucose transporter (GFTP) bears a single amino acid exchange that renders this protein nonfunctional but correctly localized to the Golgi. We now report a novel dual defect by which a truncated GFTP causes the disease in a new LAD II patient. We s...

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Publication status:
Published

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Publisher copy:
10.1182/blood-2005-08-3334

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Journal:
Blood
Volume:
107
Issue:
10
Pages:
3959-3966
Publication date:
2006-05-05
DOI:
EISSN:
1528-0020
ISSN:
0006-4971
URN:
uuid:3a164f08-9398-454b-bc14-27b6155771ac
Source identifiers:
33376
Local pid:
pubs:33376

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