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Molecular assays must be precisely built to detect deletions resulting from gene conversion On this region.In aHUS the lesions and medical indicators are generally localized inside the kidney, whereas the pathologic variations of TTP are more extensively distributed. Clinically, TTP manifests largely with central nervous system signs, but renal ins
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When the pathogenic variant present in the proband can not be detected in the leukocyte DNA of both guardian, the recurrence hazard to sibs is estimated for being one% based upon the theoretic possibility of parental germline mosaicism.Variants listed while in the desk are actually provided by the authors. GeneReviews workers have not independently