Somatic mosaicism is well known in disorders where the manifestations are readily seen, eg
the skin in neurofibromatosis I. In single gene disorders of higher frequency, especially X …

Somatic mosaicism is the result of postzygotic de novo mutation occurring in a portion of the
cells making up an organism. Structural genetic variation is a very heterogeneous group of …

BACKGROUND: Anemia is highly prevalent in inflammatory bowel disease patients, and red
blood cell transfusion is often indicated already at reproductive age. Both transfusion and …

Routine ABO blood group typing of apparently healthy individuals sporadically uncovers
unexplained mixed‐field reactions. Such blood group discrepancies can either result from a …

Background The hallmark of myelodysplastic syndrome (MDS) remains dysplasia in the
bone marrow (BM). However, diagnosing MDS may be challenging and subject to inter …

Background D antigen variants may be grouped into partial D, weak D, and DEL types.
Cumulative phenotype frequencies of these D variants may approach 1% in certain E …

Next-generation sequencing (NGS) has revolutionized personalized medicine and is being
applied routinely in clinical diagnostics for oncology, congenital diseases, microbiology, and …

Although differential expression of ABO antigens on platelets is related to recipients' platelet
recovery and neonatal alloimmune thrombocytopenia in ABO-incompatible transfusion and …

1|. METHODS We searched the Human RhesusBase 6 and GenBank 24 and catalogued all
known frameshift variants. Accompanying the online search, we checked the reference lists …

Anomalous expression of the Rh antigen, D, has occasionally been observed in patients
with certain myeloproliferative disorders. Indeed, this phenomenon led to the tentative …