SAR1B
Gentests:
| Klinisch | Untersuchungsmethoden | Familienuntersuchung |
| Bearbeitungszeit | 5 Tage | |
| Probentyp | genomische DNS |
| Forschung | Untersuchungsmethoden | Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens |
| Bearbeitungszeit | 25 Tage | |
| Probentyp | genomische DNS |
| Forschung | Untersuchungsmethoden | Multiplex ligationsabhängige Amplifikation |
| Bearbeitungszeit | 25 Tage | |
| Probentyp | genomische DNS |
Verknüpfte Erkrankungen:
Chylomikronämie
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ABCA1
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ABCG5
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APOA5
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APOC2
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APOE
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Chylomikronen-Retentions-Krankheit
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SAR1B
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GPIHBP1
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LCAT
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LIPA
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LIPC
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LMF1
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LPL
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SAR1B
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Referenzen:
| 1. |
Schekman R et al. (1996) Coat proteins and vesicle budding. [^] |
| 2. |
Aguglia U et al. (2000) Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome. [^] |
| 3. |
Takai Y et al. (2001) Small GTP-binding proteins. [^] |
| 4. |
He H et al. (2002) Identification and characterization of nine novel human small GTPases showing variable expressions in liver cancer tissues. [^] |
| 5. |
Jones B et al. (2003) Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. [^] |
| 6. |
Annesi G et al. (2007) SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. [^] |
| 7. |
Charcosset M et al. (2008) Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein. [^] |
