Congenital FX deficiency Rio Tercero: a new heterozygous missense mutation (Cys241Gly) with a potentiating effect by a polymorphism (c. 503-57C > T).

CONCLUSIONS: The polymorphism present in the family seems to be capable of potentiating the defect induced by the new mutation. This, safe for epigenetics phenomena, is the only possible explanation for the discrepancy found in the FX level between mother and daughter despite of the fact that both carried the same new mutation. PMID: 28891452 [PubMed - as supplied by publisher]
Source: Cardiovascular and Hematological Disorders Drug Targets - Category: Drugs & Pharmacology Tags: Cardiovasc Hematol Disord Drug Targets Source Type: research