Literature DB >> 7849718

Identification of a new frameshift mutation (1801delAG) in the ALD gene.

A Barceló1, M Girós, C O Sarde, A Martínez-Bermejo, J L Mandel, T Pàmpols, X Estivill.   

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Year:  1994        PMID： 7849718     DOI： 10.1093/hmg/3.10.1889

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


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  6 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

Review 3.  DNA diagnosis of X-linked adrenoleukodystrophy.

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

4.  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

5.  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

6.  De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene.

Authors:  A Barceló; M Girós; C O Sarde; G Pintos; J L Mandel; T Pàmpols; X Estivill
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132
  6 in total

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