✦ LIBER ✦

ABCD1 Gene Mutations in Chinese Patients With X-Linked Adrenoleukodystrophy

✍ Scribed by Hong Pan; Hui Xiong; Ye Wu; Yue-Hua Zhang; Xin-Hua Bao; Yu-Wu Jiang; Xi-Ru Wu

Book ID: 116824771
Publisher: Elsevier Science
Year: 2005
Tongue: English
Weight: 438 KB
Volume: 33
Category: Article
ISSN: 0887-8994
DOI: 10.1016/j.pediatrneurol.2005.03.006

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular analysis of ABCD1 gene in Indi

Molecular analysis of ABCD1 gene in Indian patients with X-linked Adrenoleukodystrophy

✍ Pallavi Shukla; Neerja Gupta; Sheffali Gulati; Manju Ghosh; Suman Vasisht; Raju 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 400 KB

X-linked adrenoleukodystrophy: ABCD1 de

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism

✍ Ying Wang; Rachel Busin; Catherine Reeves; Lena Bezman; Gerald Raymond; Cicely J 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 821 KB

De Novo ABCD1 Gene Mutation in an Indian

De Novo ABCD1 Gene Mutation in an Indian Patient With Adrenoleukodystrophy

✍ Neeraj Kumar; Pallavi Shukla; Krishna K. Taneja; Veena Kalra; Surendra K. Bansal 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 254 KB

A novel mutation in the ABCD1 gene of a

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

✍ Jeong A. Park; Kyung Ran Jun; Sung-Hee Han; Gu-Hwan Kim; Han-Wook Yoo; Yun Jung 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 213 KB

ABCD1 mutations and the X-linked adrenol

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations

✍ Stephan Kemp; Aurora Pujol; Hans R. Waterham; Björn M. van Geel; Corinne D. Boeh 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 384 KB

## Communicated by Jan Kraus X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene, which encodes a peroxisomal ABC half-transporter (ALDP) involved in the import of very long-chain fatty acids (VLCFA) into the peroxisome. The disease is characterized by a striking and unp

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