Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy

Journal of Pediatric Endocrinology and Metabolism

5 years ago

Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy

Babak Emamalizadeh, Yousef Daneshmandpour, Abbas Tafakhori, Sakineh Ranji-Burachaloo, Sajad Shafiee, Elahe Ghods, Hossein Darvish

X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder, is caused by mutations in the ABCD1 gene located on Xq28. X-ALD is characterized by a spectrum of different manifestations varying in patients and families.

Publisher URL: http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-2019-0244/jpem-2019-0244.xml

DOI: 10.1515/jpem-2019-0244

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