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Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation

✍ Scribed by Durmaz, Asude; Atik, Tahir; Onay, Hüseyin; Canda, Ebru Erbaş; Uçar, Sema Kalkan; Bademkıran, Fikret; Çoker, Mahmut; Çoğulu, Özgür; Özkınay, Ferda

Book ID
125365707
Publisher
Springer
Year
2014
Tongue
English
Weight
597 KB
Volume
29
Category
Article
ISSN
0885-7490

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Identification of seven novel mutations
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy
✍ Giorgia Montagna; Antonella Di Biase; Marco Cappa; Mariarosa A.B. Melone; Carlo 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 225 KB 👁 2 views

We report the molecular findings in 14 patients (12 families) with X-linked adrenoleukodystrophy (X-ALD, MIM# 300100), a well-defined peroxisomal disorder attributed to mutations in the ABCD1 gene on chromosome Xq28. With the aims of determining the spectrum of mutations and developing an efficient