Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents
Ababneh, Nidaa A, Ali, Dema, Al-Kurdi, Ban, Sallam, Malik, Alzibdeh, Abdulla M, Salah, Bareqa, Ryalat, Abdee T, Azab, Belal, Sharrack, Basil, Awidi, Abdalla
Published in PloS one (04.08.2020)
Published in PloS one (04.08.2020)
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Journal Article
Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene
Ababneh, Nidaa A., Al-Kurdi, Ban, Ali, Dema, Abuarqoub, Duaa, Barham, Raghda, Alzibdeh, Abdulla M., Khanfar, Asim N., Altantawi, Ahmad M., Ryalat, Abdee T., Sharrack, Basil, Awidi, Abdalla
Published in Stem cell research (01.10.2020)
Published in Stem cell research (01.10.2020)
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Journal Article