Triple a syndrome: Two novel mutations in the AAAS gene

BMJ Case Reports

Volumn , Issue , 2009, Pages

  Thümmler, Susanne ^a   Huebner, Angela ^b   Baechler Sadoul, Elisabeth ^a  

^a Fondation Lenval Hopital pour Enfants   (France)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84896373808     PISSN: None     EISSN: 1757790X     Source Type: Journal    
DOI: 10.1136/bcr.09.2008.0984     Document Type: Article

References (7)

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5. Handschug K, Sperling S, Yoon SJK, et al. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet 2001; 10: 283-90. [Abstract/FREE Full text] (Pubitemid 32123986)
6. Cronshaw JM, Krutchinsky AN, Zhang W, et al. Proteomic analysis of the mammalian nuclear pore complex. J Cell Biol 2002; 158: 915-927. [Abstract/FREE Full text] (Pubitemid 35001082)
7. Krumbholz M, Koehler K, Huebner A. Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation. Biochem Cell Biol 2006; 84: 243-9. [CrossRef] [Medline] [Web of Science] (Pubitemid 43946035)