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Details on Person Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema

Class:IdLiteratureReference:9650573
_displayNameDominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema
_timestamp2019-06-21 03:36:12
author[Person:9650310] Haslund, Didde
[Person:9650324] Ryø, Laura Barrett
[Person:9650492] Seidelin Majidi, Sara
[Person:9650421] Rose, Iben
[Person:9650334] Skipper, Kristian Alsbjerg
[Person:9650506] Fryland, Tue
[Person:9650551] Bohn, Anja Bille
[Person:2132118] Koch, C
[Person:9650464] Thomsen, Martin K
[Person:5696297] Palarasah, Yaseelan
[Person:70804] Corydon, TJ
[Person:9650428] Bygum, Anette
[Person:9650405] Nejsum, Lene N
[Person:9650360] Mikkelsen, Jacob Giehm
created[InstanceEdit:9650469] Shamovsky, Veronica, 2019-06-21
journalJ. Clin. Invest.
pages388-405
pubMedIdentifier30398465
titleDominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema
volume129
year2019
(literatureReference)[EntityWithAccessionedSequence:9650331] SERPING1 V473M [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:9650346] SERPING1 T189N [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:9650362] SERPING1 S170P [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:9650415] SERPING1 V288E [endoplasmic reticulum lumen] [Homo sapiens]
[CandidateSet:9650455] Non-secretable SERPING1 variants [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:9650472] SERPING1 G184_P228del [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:9650527] SERPING1 G184E [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:9650538] SERPING1 F236S [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:9650545] SERPING1 N291H [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:9650563] SERPING1 P476L [endoplasmic reticulum lumen] [Homo sapiens]
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No pathways have been reviewed or authored by Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema (9650573)
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