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If you got two copies that are different to the expected sequence we call that ‘homozygous’, one copy ‘heterozygous’ and those that are exactly like the expected sequence ‘wild type’ So with that information now lets look at some specifics – if you have a polymorphisms in the MTHFR gene then your enzyme is downregulated
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It is estimated that up to 50% of people with vEDS are the first in their family to have it because of a random mutation
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