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Case Reports
. 2019 May;40(5):1093-1096.
doi: 10.1007/s10072-018-3596-7. Epub 2018 Oct 20.

A novel missense mutation in the ABCD1 gene of a Chinese boy diagnosed with X-linked adrenoleukodystrophy: case report

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Case Reports

A novel missense mutation in the ABCD1 gene of a Chinese boy diagnosed with X-linked adrenoleukodystrophy: case report

Mengqi Zhang et al. Neurol Sci. 2019 May.
No abstract available

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References

    1. Mosser J, Douar AM, Sarde CO, Kioschis P, Feil R, Moser H, Poustka AM, Mandel JL, Aubourg P (1993) Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 361(6414):726–730 - DOI - PubMed
    1. Higgins CF (1992) ABC transporters: from microorganisms to man. Annu Rev Cell Biol 8:67–113 - DOI - PubMed
    1. Cartier N, Hacein-Bey-Abina S, Bartholomae CC, Bougneres P, Schmidt M, Von Kalle C, Fischer A, Cavazzana-Calvo M, Aubourg P (2012) Lentiviral hematopoietic cell gene therapy for X-linked adrenoleukodystrophy. In: Methods in enzymology, Vol 507: gene transfer vectors for clinical application, vol 507. Methods in Enzymology. Elsevier Academic Press Inc, San Diego, pp 187–198
    1. Bezman L, Moser AB, Raymond GV, Rinaldo P, Watkins PA, Smith KD, Kass NE, Moser HW (2001) Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol 49(4):512–517 - DOI - PubMed
    1. Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJA, Hugo HW (2001) ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Hum Mutat 18 (6):499–515

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