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Comment
. 2014 Oct;86(4):860.
doi: 10.1038/ki.2014.208.

Homozygous TRAP1 sequence variant in a child with Leigh syndrome and normal kidneys

Stephanie J Skinner  1 , Kurston R Doonanco  1 , Richard G Boles  2 , Alicia K J Chan  1
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Free article
Comment

Homozygous TRAP1 sequence variant in a child with Leigh syndrome and normal kidneys

Stephanie J Skinner et al. Kidney Int. 2014 Oct.
Free article
No abstract available

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  • Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.
    Saisawat P, Kohl S, Hilger AC, Hwang DY, Yung Gee H, Dworschak GC, Tasic V, Pennimpede T, Natarajan S, Sperry E, Matassa DS, Stajić N, Bogdanovic R, de Blaauw I, Marcelis CL, Wijers CH, Bartels E, Schmiedeke E, Schmidt D, Märzheuser S, Grasshoff-Derr S, Holland-Cunz S, Ludwig M, Nöthen MM, Draaken M, Brosens E, Heij H, Tibboel D, Herrmann BG, Solomon BD, de Klein A, van Rooij IA, Esposito F, Reutter HM, Hildebrandt F. Saisawat P, et al. Kidney Int. 2014 Jun;85(6):1310-7. doi: 10.1038/ki.2013.417. Epub 2013 Oct 23. Kidney Int. 2014. PMID: 24152966 Free PMC article.

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