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Details on Person Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency
| Class:Id | LiteratureReference:9650328 |
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| _displayName | Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency |
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| _timestamp | 2019-06-21 03:34:27 |
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| author | [Person:9650351] Loules, Gedeon
[Person:9650479] Zamanakou, Maria
[Person:9650487] Parsopoulou, Faidra
[Person:9650576] Vatsiou, Sofia
[Person:9650454] Psarros, Fotis
[Person:8855290] Csuka, Dorottya
[Person:9650329] Porebski, Grzegorz
[Person:9650307] Obtulowicz, Krystyna
[Person:9650559] Valerieva, Anna
[Person:9650400] Staevska, Maria
[Person:9650431] López-Lera, Alberto
[Person:9650408] López-Trascasa, Margarita
[Person:9650471] Moldovan, Dumitru
[Person:9650393] Magerl, Markus
[Person:9650383] Maurer, Marcus
[Person:9650514] Speletas, Matthaios
[Person:9650419] Farkas, Henriette
[Person:9650482] Germenis, Anastasios E |
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| created | [InstanceEdit:9650469] Shamovsky, Veronica, 2019-06-21 |
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| journal | Gene |
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| pages | 76-82 |
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| pubMedIdentifier | 29753808 |
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| title | Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency |
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| volume | 667 |
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| year | 2018 |
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| (literatureReference) | [CandidateSet:9650455] Non-secretable SERPING1 variants [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:9650547] SERPING1 Q474* [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:9650555] SERPING1 R494* [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:9651381] SERPING1 F225* [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:9651423] SERPING1 S36Ffs*21 [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:9651424] SERPING1 Q338* [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:9651435] SERPING1 A2_M53del [endoplasmic reticulum lumen] [Homo sapiens]
[FailedReaction:9650447] SERPING1 variant is not secreted [Homo sapiens]
[Pathway:9657689] Defective SERPING1 causes hereditary angioedema [Homo sapiens] |
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No pathways have been reviewed or authored by Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency (9650328)
