First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T

First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T > G

Pomahacova, R; Zamboryova, J; Sykora, J; Paterova, P; Fiklik, K; Votava, T; Cerna, Z; Jehlicka, P; Lad, V; Subrt, I; Dort, J; Dortova, E

Pomahacova, R (reprint author), Charles Univ Prague, Dept Paediat, Fac Med Pilsen, Fac Hosp, Alej Svobody 80, Plzen 30460, Czech Republic.

Abstract

Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder caused by mutations in the SLC19A2 gene. To date at least 43 mu......

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First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T > G

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