Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

Nature Genetics

Volumn 34, Issue 1, 2003, Pages 29-31

  Jones, Bethan ^a   Jones, Emma L ^a   Bonney, Stephanie A ^a   Patel, Hetal N ^a   Mensenkamp, Arjen R ^a   Eichenbaum Voline, Sophie ^a   Rudling, Mats ^b   Myrdal, Urban ^c   Annesi, Grazia ^d   Naik, Sandhia ^e   Meadows, Nigel ^e   Quattrone, Aldo ^d   Islam, Suhail A ^a   Naoumova, Rossitza P ^a   Angelin, Bo ^b   Infante, Recaredo ^f   Levy, Emile ^g   Roy, Claude C ^g   Freemont, Paul S ^a   Scott, James ^a   Shoulders, Carol C ^a   more..

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c CENTRAL HOSPITAL   (Sweden)

^d INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^e QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^f INSERM   (France)

^g UNIVERSITY OF MONTREAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; CHYLOMICRON; COAT PROTEIN; COAT PROTEIN II; GUANOSINE TRIPHOSPHATASE; PROTEIN SAR1; PROTEIN SARA2; UNCLASSIFIED DRUG;

ARTICLE; CELL SECRETION; CELL TRANSPORT; CELL VACUOLE; DIETARY INTAKE; DISEASE ASSOCIATION; DISEASE SEVERITY; FAT INTAKE; GENE MUTATION; HUMAN; LIPID ABSORPTION; MALABSORPTION; NUCLEOTIDE SEQUENCE; NUTRITION; PRIORITY JOURNAL; PROTEIN FAMILY; PROTEIN TRANSPORT;

EID: 0037656344     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1145     Document Type: Article

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