𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy

✍ Scribed by Jeong A. Park; Kyung Ran Jun; Sung-Hee Han; Gu-Hwan Kim; Han-Wook Yoo; Yun Jung Hur

Book ID
116508723
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
213 KB
Volume
498
Category
Article
ISSN
0378-1119

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

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 πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 225 KB πŸ‘ 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

Eight novel ABCD1 gene mutations and thr
Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange
✍ L. DvorΓ‘kovΓ‘; G. Ε torkΓ‘novΓ‘; G. Unterrainer; J. HujovΓ‘; S. Kmoch; J. Zeman; M. H πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 299 KB

Communicated by Mark H. Paalman X-ALD is a neurological disorder associated with inherited defects in the ABCD1 (ALD) gene located on Xq28 and with impaired peroxisomal very long-chain fatty acid b-oxidation. We examined the ABCD1 gene in probands from 11 unrelated X-ALD Czech and Slovak families by