FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome

BMC Research Notes

Volumn 4, Issue , 2011, Pages

  Sobol, Maria ^a,b   Dahl, Niklas ^a   Klar, Joakim ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b TARAS SHEVCHENKO NATIONAL UNIVERSITY OF KYIV   (Ukraine)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 79953900804     PISSN: None     EISSN: 17560500     Source Type: Journal    
DOI: 10.1186/1756-0500-4-90     Document Type: Article

References (13)

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2. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. J Klar M Schweiger R Zimmerman R Zechner H Li H Torma A Vahlquist B Bouadjar N Dahl J Fischer, Am J Hum Genet 2009 85 248 253 10.1016/j.ajhg.2009.06.021 19631310
3. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009. V Oji G Tadini M Akiyama C Blanchet Bardon C Bodemer E Bourrat P Coudiere JJ DiGiovanna P Elias J Fischer,, et al. J Am Acad Dermatol 2010 63 607 641 10.1016/j.jaad.2009.11.020 20643494
4. Ichthyosis congenita type IV: a new case resembling diffuse cutaneous mastocytosis. A Brusasco C Gelmetti G Tadini R Caputo, Br J Dermatol 1997 136 377 379 10.1111/j.1365-2133.1997.tb14948.x 9115920 (Pubitemid 27105862)
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9. Acyl-CoA synthetases: fatty acid uptake and metabolic channeling. M Digel R Ehehalt W Stremmel J Fullekrug, Mol Cell Biochem 2009 326 23 28 10.1007/s11010-008-0003-3 19115050
10. A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis. F Morice-Picard C Leaute-Labreze A Decor F Boralevi D Lacombe A Taieb J Fischer, Am J Med Genet A 2010 152A 2664 2665 10.1002/ajmg.a.33648 20815031
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12. Multiple sequence alignment with the Clustal series of programs. R Chenna H Sugawara T Koike R Lopez TJ Gibson DG Higgins JD Thompson, Nucleic Acids Res 2003 31 3497 3500 10.1093/nar/gkg500 12824352 (Pubitemid 37442184)
13. Fatty acid transport in Saccharomyces cerevisiae. Directed mutagenesis of FAT1 distinguishes the biochemical activities associated with Fat1p. Z Zou CC DiRusso V Ctrnacta PN Black, J Biol Chem 2002 277 31062 31071 10.1074/jbc.M205034200 12052836 (Pubitemid 34970811)