Humangenetik Spektrum
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COL3A1..................................................99<br />
COL11A1..............................................270<br />
COMT...................................................227<br />
Congenitale Bilaterale Aplasie des<br />
Vas Deferens......................................80<br />
Cowden-Syndrom....................................81<br />
CP .........................................................36<br />
CPA1....................................................221<br />
CPEO....................................................217<br />
CPOX....................................................235<br />
CPT2......................................................71<br />
CPT II-Mangel.........................................71<br />
CPVT....................................................163<br />
Crigler-Najjar-Syndrom............................82<br />
CTRC....................................................221<br />
CUL4B....................................................67<br />
CVID.......................................................82<br />
CVID 2....................................................82<br />
CYP1A1................................................227<br />
CYP1A2................................................227<br />
CYP1B1................................................227<br />
CYP2B6................................................227<br />
CYP2C8................................................227<br />
CYP2C9 Pharmakogenetik.......................85<br />
CYP2C9 / VKORC1..................................84<br />
CYP2C19 Pharmakogenetik.....................83<br />
CYP2D6 Pharmakogenetik.......................86<br />
CYP2E1................................................227<br />
CYP3A4................................................227<br />
CYP3A5 Pharmakogenetik.......................88<br />
CYP4F2................................................227<br />
CYP7A1................................................137<br />
CYP11B1..............................................269<br />
CYP17A1................................................32<br />
CYP21A2................................................40<br />
CYP27B1..............................................283<br />
Cystinurie...............................................89<br />
Cystische Fibrose....................................89<br />
D<br />
Danon-Krankheit.....................................90<br />
Darier‘sche Krankheit............................197<br />
DCM.......................................................95<br />
Deletion 22q11.......................................94<br />
Demenz................................................113<br />
Depletionssyndrom, mitochondriales.........91<br />
DFNB1..................................................255<br />
DFNX2..................................................256<br />
DGUOK...................................................91<br />
DHCR7.................................................261<br />
Diabetes<br />
insipidus renalis..............................92<br />
insipidus zentralis............................93<br />
mellitus, permanenter neonataler.....94<br />
DiGeorge-Syndrom..................................94<br />
Dihydropyrimidin-Dehydrogenase-<br />
Defizienz............................................96<br />
Dilatative Kardiomyopathie.......................95<br />
DLAT....................................................246<br />
DLD......................................................246<br />
DMP1...................................................152<br />
DOCK8.................................................140<br />
DPYD......................................................96<br />
Dravet-Syndrom und andere SCN1Aassoziierte<br />
Erkrankungen....................96<br />
18
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