Article
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.
Human mutation - 1 Feb 2005
Montagna Giorgia, Di Biase Antonella, Cappa Marco, Melone Mariarosa A B, Piantadosi Carlo, Colabianchi Diego, Patrono Clarice, Attori Lucilla, Cannelli Natalia, Cotrufo Roberto, Salvati Serafina, Santorelli Filippo M
Abstract excerpt
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 molecular genetic test for analysis of at-risk women whose carrier status is unknown, and to offer molecular...
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