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Baron D, Assaraf YG, Cohen N, Aronheim A. Lack of plasma membrane targeting of a G172D mutant thiamine transporter derived from Rogers syndrome family. Mol Med. 2002 Aug;8(8):462-74.
Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Nat Genet. 1999 Jul;22(3):309-12.
Gene Review: Thiamine-Responsive Megaloblastic Anemia
Liberman MC, Tartaglini E, Fleming JC, Neufeld EJ. Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype. J Assoc Res Otolaryngol. 2006 Sep;7(3):211-7. Epub 2006 Apr 27.
Ricketts CJ, Minton JA, Samuel J, Ariyawansa I, Wales JK, Lo IF, Barrett TG. Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families. Acta Paediatr. 2006 Jan;95(1):99-104.
Subramanian VS, Marchant JS, Parker I, Said HM. Cell biology of the human thiamine transporter-1 (hTHTR1). Intracellular trafficking and membrane targeting mechanisms. J Biol Chem. 2003 Feb 7;278(6):3976-84. Epub 2002 Nov 25.
: February 2009
: November 23, 2015
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