Literature DB >> 8535452

Two intronic mutations in the adrenoleukodystrophy gene.

S Kemp1, M J Ligtenberg, B M van Geel, P G Barth, C O Sarde, B A van Oost, P A Bolhuis.   

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Year:  1995        PMID： 8535452     DOI： 10.1002/humu.1380060316

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  5 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.  A mouse model for X-linked adrenoleukodystrophy.

Authors:  J F Lu; A M Lawler; P A Watkins; J M Powers; A B Moser; H W Moser; K D Smith
Journal:  Proc Natl Acad Sci U S A       Date:  1997-08-19       Impact factor: 11.205

3.  ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy.

Authors:  S Kemp; P A Mooyer; P A Bolhuis; B M van Geel; J L Mandel; P G Barth; P Aubourg; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

4.  Alterations in the steroid hormone receptor co-chaperone FKBPL are associated with male infertility: a case-control study.

Authors:  Olaf Sunnotel; Laszlo Hiripi; Kevin Lagan; Jennifer R McDaid; Johanny M De León; Yasushi Miyagawa; Hannah Crowe; Soniya Kaluskar; Michael Ward; Catherine Scullion; Alan Campbell; C S Downes; David Hirst; David Barton; Edgar Mocanu; Akira Tsujimura; Marc B Cox; Tracy Robson; Colum P Walsh
Journal:  Reprod Biol Endocrinol       Date:  2010-03-08       Impact factor: 5.211

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
  5 in total

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