Literature DB >> 7849723

Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).

S Fuchs1, C O Sarde, H Wedemann, E Schwinger, J L Mandel, A Gal.   

Abstract

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Year:  1994        PMID： 7849723     DOI： 10.1093/hmg/3.10.1903

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  11 in total

Review 1.  X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.

Authors:  K D Smith; S Kemp; L T Braiterman; J F Lu; H M Wei; M Geraghty; G Stetten; J S Bergin; J Pevsner; P A Watkins
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

2.  Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.

Authors:  V Feigenbaum; G Lombard-Platet; S Guidoux; C O Sarde; J L Mandel; P Aubourg
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

3.  Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy.

Authors:  Neeraj Kumar; Krishna K Taneja; Atul Kumar; Deepti Nayar; Bhupesh Taneja; Satindra Aneja; Madhuri Behari; Veena Kalra; Surendra K Bansal
Journal:  J Genet       Date:  2010-12       Impact factor: 1.166

4.  Effects of exogenous hexacosanoic acid on biochemical myelin composition in weaning and post-weaning rats.

Authors:  A Di Biase; C Avellino; F Pieroni; T Quaresima; A Grisolia; M Cappa; S Salvati
Journal:  Neurochem Res       Date:  1997-03       Impact factor: 3.996

Review 5.  DNA diagnosis of X-linked adrenoleukodystrophy.

Authors:  S Seneca; W Lissens
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

6.  Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.

Authors:  E W Krasemann; V Meier; G C Korenke; D H Hunneman; F Hanefeld
Journal:  Hum Genet       Date:  1996-02       Impact factor: 4.132

7.  Altered expression of ALDP in X-linked adrenoleukodystrophy.

Authors:  P A Watkins; S J Gould; M A Smith; L T Braiterman; H M Wei; F Kok; A B Moser; H W Moser; K D Smith
Journal:  Am J Hum Genet       Date:  1995-08       Impact factor: 11.025

8.  Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.

Authors:  Shan-Shan Chu; Jun Ye; Hui-Wen Zhang; Lian-Shu Han; Wen-Juan Qiu; Xiao-Lan Gao; Xue-Fan Gu
Journal:  World J Pediatr       Date:  2015-10-11       Impact factor: 2.764

9.  Unusual brain images of a boy with adolescent cerebral X-linked adrenoleukodystrophy presenting with exhibitionism: A CARE-compliant case report.

Authors:  Feixia Zheng; Zhongdong Lin; Xiuyun Ye; Xulai Shi
Journal:  Medicine (Baltimore)       Date:  2017-12       Impact factor: 1.817

10.  S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy.

Authors:  Fang Yan; Wenbo Wang; Hui Ying; Hongyu Li; Jing Chen; Chao Xu
Journal:  Oncotarget       Date:  2017-09-18
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