Investigation of a null mutation of the CNTF gene in familial amyotrophic lateral sclerosis.


Neurotrophic factors, such as ciliary neurotrophic factor (CNTF), have been implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), a human neurodegenerative disease primarily of upper and lower motor neurones. A null mutation of the CNTF gene has recently been described. The mutation is an intronic point mutation (G to A) which generates a… (More)


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