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Abnormal glucose metabolism in cystic fibrosis.
Moran A, Doherty L, Wang X, Thomas W. Moran A, et al. Among authors: doherty l. J Pediatr. 1998 Jul;133(1):10-17. doi: 10.1016/s0022-3476(98)70171-4. J Pediatr. 1998. PMID: 9672504 Review. No abstract available.
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT. Doherty L, et al. Am J Hum Genet. 2010 Feb 12;86(2):222-8. doi: 10.1016/j.ajhg.2009.12.015. Epub 2010 Jan 28. Am J Hum Genet. 2010. PMID: 20116044 Free PMC article.
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.
Gazda HT, Preti M, Sheen MR, O'Donohue MF, Vlachos A, Davies SM, Kattamis A, Doherty L, Landowski M, Buros C, Ghazvinian R, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH. Gazda HT, et al. Among authors: doherty l. Hum Mutat. 2012 Jul;33(7):1037-44. doi: 10.1002/humu.22081. Epub 2012 Apr 16. Hum Mutat. 2012. PMID: 22431104 Free PMC article.
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