Parton MJ, Broom W, Andersen PM, Al-Chalabi A, Nigel Leigh P, Powell JF, Shaw CE, . D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype. Hum Mutat. 2002 Dec;20(6):473. PubMed.

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    • User Profile Image John Hardy
      Institute of Neurology, UCL
    • Posted:

    This is a fascinating problem. Why should a mutation on one haplotypic background be recessive, but on others be dominant?

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