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Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.
- Jones, Bethan (author)
- Jones, Emma L (author)
-
- Bonney, Stephanie A (author)
- Karolinska Institutet
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- Patel, Hetal N (author)
- Eichenbaum-Voline, Sophie (author)
- Rudling, Mats (author)
- Annesi, Grazia (author)
- Naik, Sandhia (author)
- Meadows, Nigel (author)
- Quattrone, Aldo (author)
- Islam, Suhail A (author)
- Naoumova, Rossitza P (author)
- Angelin, Bo (author)
- Infante, Recaredo (author)
- Levy, Emile (author)
- Roy, Claude C (author)
- Freemont, Paul S (author)
- Scott, James (author)
- Shoulders, Carol C (author)
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- (creator_code:org_t)
- Springer Science and Business Media LLC, 2003
- 2003
- English.
- In: Nat Genet. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 34:1, s. 29-31
- Journal article (peer-reviewed)
Subject headings
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Keyword
- COP-Coated Vesicles/enzymology
- Chylomicrons/metabolism
- Dietary Fats/*pharmacokinetics
- Female
- GTP Phosphohydrolases/chemistry/*genetics
- Glycogen Storage Disease Type IV/enzymology/genetics
- Humans
- Intestinal Absorption
- Malabsorption Syndromes/*enzymology/*genetics/metabolism
- Male
- Models; Molecular
- Mutation
- Pedigree
- Protein Conformation
- Research Support; Non-U.S. Gov't
- Spinocerebellar Degenerations/enzymology/genetics
Publication and Content Type
- ref (subject category)
- art (subject category)
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- Jones, Bethan
- Jones, Emma L
- Bonney, Stephani ...
- Patel, Hetal N
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- Eichenbaum-Volin ...
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- Rudling, Mats
- Myrdal, Urban
- Annesi, Grazia
- Naik, Sandhia
- Meadows, Nigel
- Quattrone, Aldo
- Islam, Suhail A
- Naoumova, Rossit ...
- Angelin, Bo
- Infante, Recared ...
- Levy, Emile
- Roy, Claude C
- Freemont, Paul S
- Scott, James
- Shoulders, Carol ...
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- Nat Genet
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- Uppsala University
- Karolinska Institutet
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