Molekulargenetik

Stoffwechselerkrankungen

Maturity onset diabetes of the young (MODY)

ABCC8, APPL1, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1

Mikrodeletionssyndrom 17q12

MLPA 17q12

Morbus Fabry

GLA

Morbus Gaucher

GBA

Morbus Meulengracht

UGT1A1

Morbus Pompe

GAA

Morbus Wilson

ATP7B

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