Article
Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy.
Journal of pediatric endocrinology & metabolism : JPEM - 26 Nov 2019
Emamalizadeh Babak, Daneshmandpour Yousef, Tafakhori Abbas, Ranji-Burachaloo Sakineh, Shafiee Sajad, Ghods Elahe, Darvish Hossein
Abstract excerpt
Background 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. Methods Four pedigrees with X-ALD consisting of patients and healthy members were selected for investigation of ABCD1 gene mutations. The mutation analysis was performed...
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