| Literature DB >> 32578312 |
Karina Meijer1, Waander van Heerde2,3, Keith Gomez4.
Abstract
Rare bleeding disorders result in significant morbidity but are globally underdiagnosed. Advances in genomic testing and specialist laboratory assays have greatly increased the diagnostic armamentarium. This has resulted in the discovery of new genetic causes for rare diseases and a better understanding of the underlying molecular pathology.Entities:
Keywords: blood coagulation disorders; blood platelet disorders; hemorrhagic disorders; whole exome sequencing; whole genome sequencing
Year: 2020 PMID： 32578312 DOI： 10.1111/hae.14049
Source DB: PubMed Journal: Haemophilia ISSN： 1351-8216 Impact factor: 4.287