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from a patient's symptoms down to the specific molecular mechanisms involved. Mutations in the actin genes ACTB and ACTG1 can result in developmental disorders and organ malformations collectively referred
eine erbliche Motoneuronerkrankung, hervorgerufen durch Mutationen im SMN (survival of motoneuron) Gen. Durch Verlust motorischer Nervenzellen im Rückenmark kommt es zu einer fortschreitenden Abnahme der
chronisch entzündlichen ebenso wie angeborene Krankheiten betreffen und darüber hinau s. Zell- und Gen-basierte Therapien, die von der Transplantation von klassischen blutbildenden oder mesenchymalen S