Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex

Nature Genetics

Volumn 34, Issue 2, 2003, Pages 220-225

  Zhang, Bin ^a   Cunningham, Michael A ^a   Nichols, William C ^b   Bernat, John A ^a   Seligsohn, Uri ^c   Pipe, Steven W ^a   McVey, John H ^d   Schulte Overberg, Ursula ^e   De Bosch, Norma B ^f   Ruiz Saez, Arlette ^f   White, Gilbert C ^g   Tuddenham, E G D ^d   Kaufman, Randal J ^a,h   Ginsburg, David ^a,h  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^c SHEBA MEDICAL CENTER   (Israel)

^d IMPERIAL COLLEGE LONDON   (United Kingdom)

^e HUMBOLDT UNIVERSITY   (Germany)

^f Centro Nacional de Hemofilia   (Venezuela)

^g UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF MICHIGAN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 8; CARRIER PROTEIN; MANNOSE BINDING PROTEIN; PROTEIN LMAN1; PROTEIN MCFD2; UNCLASSIFIED DRUG;

ARTICLE; BLEEDING DISORDER; CELL MEMBRANE TRANSPORT; COMPARTMENT MODEL; COMPLEX FORMATION; ENDOPLASMIC RETICULUM; FEMALE; GENE MUTATION; GENOTYPE; GOLGI COMPLEX; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR MODEL; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN TRANSPORT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIGNAL TRANSDUCTION;

AMINO ACID SEQUENCE; BIOLOGICAL TRANSPORT, ACTIVE; CARRIER PROTEINS; ENDOPLASMIC RETICULUM; FACTOR V DEFICIENCY; FEMALE; GOLGI APPARATUS; HELA CELLS; HEMOPHILIA A; HEMORRHAGE; HUMANS; MALE; MANNOSE-BINDING LECTINS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID; TRANSFECTION; VESICULAR TRANSPORT PROTEINS;

EID: 0038278822     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1153     Document Type: Article

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