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Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation

  1. Author:
    Mirabello, Lisa
    Khincha, Payal P.
    Ellis, Steven R.
    Giri, Neelam
    Brodie, Seth
    Chandrasekharappa, Settara C.
    Donovan, Frank X.
    Zhou, Weiyin
    Hicks, Belynda
    Boland, Joseph
    Yeager, Meredith
    Jones, Kristine
    Zhu, Bin
    Wang, Mingyi
    Alter, Blanche P.
    Savage, Sharon A.

  2. Author Address

    NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA.Univ Louisville, Dept Biochem & Mol Biol, Louisville, KY USA.Frederick Natl Lab Canc Res, Leidos Biomed Res, Cancer Genom Res Lab, Frederick, MD USA.NHGRI, Canc Genet & Comparat Genom Branch, Bethesda, MD 20892 USA.
    1. Year: 2017
    2. Date: Jun
  2. Journal: Journal of Medical Genetics
  3. BMJ PUBLISHING GROUP,
    1. 54
    2. 6
    3. Pages: 417-425
  5. Type of Article: Article
  6. ISSN: 0022-2593
  1. Abstract:

    Background Diamond-Blackfan anaemia (DBA) is an inherited bone marrow failure syndrome (IBMFS) characterised by erythroid hypoplasia. It is associated with congenital anomalies and a high risk of developing specific cancers. DBA is caused predominantly by autosomal dominant pathogenic variants in at least 15 genes affecting ribosomal biogenesis and function. Two X-linked recessive genes have been identified.

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External Sources

  1. View Full Text
  2. DOI: 10.1136/jmedgenet-2016-104346
  3. PMID: 28280134
  4. View record in Web of Science®
  5. WOS: 000402366500007

Library Notes

  1. Fiscal Year: FY2016-2017
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