Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
| Klinisch | Untersuchungsmethoden | Familienuntersuchung |
| Bearbeitungszeit | 5 Tage | |
| Probentyp | genomische DNS |
| Klinisch | Untersuchungsmethoden | Hochdurchsatz-Sequenzierung |
| Bearbeitungszeit | 25 Tage | |
| Probentyp | genomische DNS |
| Forschung | Untersuchungsmethoden | Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens |
| Bearbeitungszeit | 25 Tage | |
| Probentyp | genomische DNS |
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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| 1. |
Schekman R et al. (1996) Coat proteins and vesicle budding. 
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| 2. |
Aguglia U et al. (2000) Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome.
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| 3. |
Takai Y et al. (2001) Small GTP-binding proteins.
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| 4. |
He H et al. (2002) Identification and characterization of nine novel human small GTPases showing variable expressions in liver cancer tissues.
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| 5. |
Jones B et al. (2003) Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.
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| 6. |
Annesi G et al. (2007) SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases.
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| 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.
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