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In case the pathogenic variant present in the proband cannot be detected within the leukocyte DNA of either father or mother, the recurrence risk to sibs is approximated to be one% based upon the theoretic likelihood of parental germline mosaicism.“Our warehouse had been heating up around the summertime plus the personnel began to complain about
Roughly eighty% of TTP is triggered by deficient activity of ADAMTS13. ADAMTS13 deficiency can be constitutive, on account of biallelic ADAMTS13 pathogenic variants; or obtained, on account of an inhibitory antibody. Analysis of ADAMTS13 activity is carried out making use of checks dependant on the capability with the protease to cleave conventiona
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