A null mutation within the ciliary neurotrophic factor (CNTF)-gene: implications for susceptibility and disease severity in patients with multiple sclerosis

Potential implications of a ciliary neur

Potential implications of a ciliary neurotrophic factor gene mutation in a german population of patients with motor neuron disease

✍ Ralf Giess; Rudolf Goetz; Bertold Schrank; Guenter Ochs; Michael Sendtner; Klaus 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB 👁 2 views

The frequency of a recently described point mutation of the ciliary neurotrophic factor (CNTF) gene was investigated in a population of 154 German patients with motor neuron disease (MND). Twenty-two percent of the patients were heterozygous, 2% homozygous for the CNTF mutation. Since the gene defec