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VII
_____________________________________________________________________________________
HPS ................................................................... Hyperprostaglandin-E-Syndrom
Ile ........................................................................................................... Isoleucin
[kb] .............................................................................................. Kilobasenpaare
Kir ............................................................................................ K
+
inward rectifier
Leu ............................................................................................................ Leucin
Lys ............................................................................................................... Lysin
Met ....................................................................................................... Methionin
PCR ............................................................................ Polymerasekettenreaktion
PGE
2
......................................................................................... Prostaglandin E
2
Phe .................................................................................................. Phenylalanin
PKA ............................................................................................. Proteinkinase A
PKC ............................................................................................ Proteinkinase C
Pro .............................................................................................................. Prolin
ROMK ............................................................................ renal outer medullary K
+
Ser ............................................................................................................... Serin
SSCP ................................................ Single-strand-conformation-polymorphism
SSW ............................................................................. Schwangerschaftswoche
Thr ......................................................................................................... Threonin
Trp ..................................................................................................... Tryptophan
TSC ................................................................... Thiazid-sensitiver Kotransporter
Tyr ............................................................................................................ Tyrosin
[U] .................................................................................................................. Unit
[Upm] ........................................................................... Umdrehungen pro Minute
Val ................................................................................................................ Valin
v/v ..................................................................................... Volumen pro Volumen
w/v ..................................................................................... Gewicht pro Volumen
- Salzverlusttubulopathien 1
- Abkürzungen 6
- 1 Einleitung 8
- Einleitung 2 9
- Einleitung 3 10
- Einleitung 4 11
- Einleitung 5 12
- Einleitung 6 13
- Einleitung 8 15
- Einleitung 9 16
- Einleitung 11 18
- 1.3 Zielsetzung dieser Arbeit 19
- Genomische Organisation des 22
- Einleitung 16 23
- 2 Material und Methoden 24
- 2.2 Allgemeine Materialien 25
- 2.3 DNA-Gewinnung 27
- Material und Methoden 28
- 2.5 Gelelektrophorese 33
- 2.6 SSCP-Analyse 35
- SSCP-Auswer 40
- Patientenprobe mit Band-Shift 40
- 2.7 DNA-Sequenzierung 41
- G A T C 43
- 3 Ergebnisse 49
- Ergebnisse 53
- Tabelle 3.5 78
- Mutation 85
- Ins(TCT)TCAGGCTTC + 85
- Del(TCT)CAGAGCATCACA + C346A 85
- Stop (ochre) 86
- Tyr 86
- 4 Diskussion 92
- Diskussion 100
- 4.2 Das ClC-Kb-Gen ( 101
- Abbildung nicht dargestellt 103
- 4.3 Pathophysiologie 108
- 4.4 Schlussbetrachtung 109
- 5 Zusammenfassung 112
- Zusammenfassung 113
- 6 Literaturverzeichnis 114
- 7 Anhang 126
- 7.3 Danksagung 130
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