The study describes the mutations causing adrenoleukodystrophy in seven Italian families. Four missense mutations leading to amino acid substitutions, two frameshift mutations leading to a premature termination signal, and a splicing mutation were identified. Mutations 2014C> >T (P543L), 2053A> >G (
✦ LIBER ✦
Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene
✍ Scribed by Carla P Guimarães; Manuela Lemos; Clara Sá-Miranda; Jorge E Azevedo
- Book ID
- 117735369
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 95 KB
- Volume
- 76
- Category
- Article
- ISSN
- 1096-7192
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Detection of mutations in the ALD gene (
✍
M. Gomez Lira; M. Mottes; P.F. Pignatti; I. Medica; G. Uziel; M. Cappa; E. Berti
📂
Article
📅
2000
🏛
John Wiley and Sons
🌐
English
⚖ 57 KB
👁 2 views
Identification of novel SNPs ofABCD1,ABC
✍
Takashi Matsukawa; Muriel Asheuer; Yuji Takahashi; Jun Goto; Yasuyuki Suzuki; No
📂
Article
📅
2010
🏛
Springer
🌐
English
⚖ 327 KB
Identification of a novel R21X mutation
✍
M. Luís Cardoso; Esmeralda Martins; Rui Vasconcelos; Laura Vilarinho; Jorge Roch
📂
Article
📅
1999
🏛
John Wiley and Sons
🌐
English
⚖ 121 KB
👁 2 views
Argininemia is a rare autossomal recessive disorder caused by deficiency in the cytosolic liver-type arginase enzyme (L-arginine urea-hydrolase; E.C. 3.5.3.1). In order to investigate the molecular basis for argininemia in four unrelated Portuguese patients (two from northern Portugal and two from M
X-Linked Adrenoleukodystrophy (ALD): A N
✍
J. Berger; B. Molzer; I. Fae; H. Bernheimer
📂
Article
📅
1994
🏛
Elsevier Science
🌐
English
⚖ 313 KB
Molecular characterization of Portuguese
✍
MF Coutinho; L Lacerda; MJ Prata; H Ribeiro; L Lopes; C Ferreira; S Alves
📂
Article
📅
2008
🏛
John Wiley and Sons
🌐
English
⚖ 70 KB
A novel mutation in the ABCD1 gene of a
✍
Jeong A. Park; Kyung Ran Jun; Sung-Hee Han; Gu-Hwan Kim; Han-Wook Yoo; Yun Jung
📂
Article
📅
2012
🏛
Elsevier Science
🌐
English
⚖ 213 KB