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There are many protein deficiency issues caused by genetic mutation for eg: Protein C whose deficiency causes abnormal blood clots. This protein is controlled by the PROC gene whose mutation causes Type I Protein C deficiency (reference). There are treatments of replacing proteins like in the case of Protein C deficiency, protein C concentrates are used ...


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I haven't found 1.5 Mb, but 1 Megabase. This is the case for the shh gene in chicken, where the enhancer element is located 1 Mb upstream. The original article can be found here: "A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly." There are two reviews which are also interesting in ...



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