Article
Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates that XRCC2 is a Fanconi anaemia gene.
Journal of medical genetics - 1 Oct 2016
Park Jung-Young, Virts Elizabeth L, Jankowska Anna, Wiek Constanze, Othman Mohamed, Chakraborty Sujata C, Vance Gail H, Alkuraya Fowzan S, Hanenberg Helmut, Andreassen Paul R
Abstract excerpt
BACKGROUND: Fanconi anaemia (FA) is a heterogeneous inherited disorder clinically characterised by progressive bone marrow failure, congenital anomalies and a predisposition to malignancies. OBJECTIVE: Determine, based on correction of cellular phenotypes, whether XRCC2 is a FA gene. METHODS: Cells (900677A) from a previously identified patient with biallelic mutation of XRCC2, among other mutations, were...
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