ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families.

Identification of a consensus motif for retention of transmembrane proteins in the endoplasmic reticulum.

1990 • 918 citations

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

1993 • 787 citations

Identification, by a monoclonal antibody, of a 53-kD protein associated with a tubulo-vesicular compartment at the cis-side of the Golgi apparatus.

1988 • 488 citations

Mutations in the ER–Golgi Intermediate Compartment Protein ERGIC-53 Cause Combined Deficiency of Coagulation Factors V and VIII

1998 • 461 citations

The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990.

1990 • 285 citations

The Recycling of ERGIC-53 in the Early Secretory Pathway

1997 • 272 citations

Identification of an intermediate compartment involved in protein transport from endoplasmic reticulum to Golgi apparatus.

1990 • 252 citations

ERGIC-53 is a functional mannose-selective and calcium-dependent human homologue of leguminous lectins.

1996 • 177 citations

ERGIC-53, a membrane protein of the ER-Golgi intermediate compartment, carries an ER retention motif.

1993 • 167 citations

Mistargeting of the Lectin ERGIC-53 to the Endoplasmic Reticulum of HeLa Cells Impairs the Secretion of a Lysosomal Enzyme

1998 • 162 citations

Combined Factor V and Factor VIII Deficiency among Non-Ashkenazi Jews

1982 • 122 citations

ERGIC-53, a Membrane Protein of the Endoplasmic Reticulum-Golgi Intermediate Compartment, Is Identical to MR60, an Intracellular Mannose-specific Lectin of Myelomonocytic Cells

1995 • 121 citations

Targeting of protein ERGIC-53 to the ER/ERGIC/cis-Golgi recycling pathway.

1995 • 120 citations

Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency.

1999 • 96 citations

Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping.

1997 • 73 citations

The Locus for Combined Factor V-Factor VIII Deficiency (F5F8D) Maps to 18q21, between D18S849 and D18S1103

1997 • 48 citations

Normal titer of functional and immunoreactive protein-C inhibitor in plasma of patients with congenital combined deficiency of factor V and factor VIII

1983 • 35 citations

Combined Factor‐V and Factor‐ VIII Deficiency: Report of Four Cases

1969 • 30 citations

Combined factors V and VIII deficiency — the solution

1998 • 22 citations

Decreased factor VIII clotting antigen levels in the combined factor V and VIII deficiency

1984 • 13 citations