Diagnosis of rare bleeding disorders. (23rd June 2020)
- Record Type:
- Journal Article
- Title:
- Diagnosis of rare bleeding disorders. (23rd June 2020)
- Main Title:
- Diagnosis of rare bleeding disorders
- Authors:
- Meijer, Karina
van Heerde, Waander
Gomez, Keith - Abstract:
- 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.
- Is Part Of:
- Haemophilia. Volume 27(2021)Supplement 3
- Journal:
- Haemophilia
- Issue:
- Volume 27(2021)Supplement 3
- Issue Display:
- Volume 27, Issue 3 (2021)
- Year:
- 2021
- Volume:
- 27
- Issue:
- 3
- Issue Sort Value:
- 2021-0027-0003-0000
- Page Start:
- 60
- Page End:
- 65
- Publication Date:
- 2020-06-23
- Subjects:
- blood coagulation disorders -- blood platelet disorders -- hemorrhagic disorders -- whole exome sequencing -- whole genome sequencing
Hemophilia -- Periodicals
616.1572005 - Journal URLs:
- http://www.blackwell-synergy.com/member/institutions/issuelist.asp?journal=hae ↗
http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1365-2516 ↗
http://onlinelibrary.wiley.com/ ↗ - DOI:
- 10.1111/hae.14049 ↗
- Languages:
- English
- ISSNs:
- 1351-8216
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - 4238.086500
British Library DSC - BLDSS-3PM
British Library STI - ELD Digital store - Ingest File:
- 16920.xml