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Details on Person Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A

Class:Id	LiteratureReference:9661951
_displayName	Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A
_timestamp	2019-09-19 22:47:54
author	[Person:9661939] Roelse, J C [Person:9661983] De Laaf, R T [Person:9661967] Timmermans, S M [Person:9661997] Peters, M [Person:5604925] van Mourik, J A [Person:9662004] Voorberg, J
created	[InstanceEdit:9662041] Shamovsky, Veronica, 2019-09-19
journal	Br. J. Haematol.
pages	241-6
pubMedIdentifier	10691849
title	Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A
volume	108
year	2000
(literatureReference)	[Summation:9663100] Hemophilia A (HA) is an X-linked, recessive coagulation diso... [CandidateSet:9661970] Non-secretable F8 variant [endoplasmic reticulum lumen] [Homo sapiens] [EntityWithAccessionedSequence:9661996] F8 N637S [endoplasmic reticulum lumen] [Homo sapiens] [EntityWithAccessionedSequence:9662023] F8 R612C [endoplasmic reticulum lumen] [Homo sapiens] [FailedReaction:9661980] F8 variant is not secreted [Homo sapiens] [Pathway:9672397] Defective F8 secretion [Homo sapiens]
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