Invest in ME Conference 12: First Class in Every Way
OverTheHills wraps up our series of articles on this year's 12th Invest in ME International Conference (IIMEC12) in London with some reflections on her experience as a patient attending the conference for the first time.
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Variations of the perforin gene in patients with multiple sclerosis

Discussion in 'Multiple Sclerosis' started by nanonug, May 9, 2012.

  1. nanonug

    nanonug Senior Member

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    Variations of the perforin gene in patients with multiple sclerosis

    Possibly pathogenic polymorphisms available on 23andme are:
    • rs28933374 (P345L) - risk allele 'T'
    • rs28933375 (A252S) - risk allele 'C'
    • rs28933376 (T435M) - risk allele 'T'
    • rs35947132 (A91V) - risk allele 'A'

    Additional info available on Pubmed's PFR1 Variation Iewer.

    By the way, I am heterozygous for rs35947132 (A91V), one the polymorphisms mentioned in the study. There are a bunch more studies on Pubmed regarding these and other polymorphisms.
     

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