@article{8be5670bcde84b4888cd18ca7bb6f375,
title = "Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII",
abstract = "The demonstration of homozygosity for an inactivating mutation in all of the patients from nine families with combined FV and FVIII deficiency clearly establishes ERGIC-53 as the gene responsible for the disease. This surprising finding identifies the molecular basis of the disorder as a defect in a common pathway for the intracellular trafficking of these two blood coagulation factors. In addition, the data demonstrate a role for a lectin within the ER-Golgi intermediate compartment in the transport of a specific subset of secreted glycoproteins.",
author = "Nichols, {W. M.} and U. Seligsohn and A. Zivelin and Terry, {V. H.} and Hertel, {C. E.} and Wheatley, {M. A.} and Moussalli, {M. J.} and Hauri, {H. P.} and N. Ciavarella and Kaufman, {R. J.} and D. Ginsburg and N. Sharon",
note = "Funding Information: We thank K. L. Mohlke for technical assistance with YAC protocols and S. Labun for secretarial assistance. This work was supported by NIH grants HL39693 (D. G. and W. C. N.) and HL57346 (R. J. K. and W. C. N.), the Swiss National Science Foundation (H.-P. H.), and the Israel Ministry of Health Chief Scientists Office grant #3421 (A. Z.). D. G. and R. J. K. are Investigators of the Howard Hughes Medical Institute.",
year = "1999",
month = sep,
language = "אנגלית",
volume = "12",
pages = "714--717",
journal = "Chemtracts",
issn = "1431-9268",
publisher = "Data Trace Publishing Co.",
number = "10",
}