The homozygous mutation G75R in the human SLC11A2 gene leads to microcytic anaemia and iron overload.

Authors :: Barrios M
Moreno-Carralero MI
Cuadrado-Grande N
Baro M
Vivanco JL
Morán-Jiménez MJ
Source :: British journal of haematology [Br J Haematol] 2012 May; Vol. 157 (4), pp. 514-6. Date of Electronic Publication: 2012 Feb 08.
Publication Year :: 2012

Subjects :: Amino Acid Substitution
Anemia, Hypochromic complications
Child
Exons
Genetic Predisposition to Disease
Humans
Iron Overload complications
Male
Anemia, Hypochromic genetics
Cation Transport Proteins genetics
Homozygote
Iron Overload genetics
Mutation

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