The homozygous mutation G75R in the human SLC11A2 gene leads to microcytic anaemia and iron overload.
Marta
M
Barrios
María-Isabel
MI
Moreno-Carralero
Nuria
N
Cuadrado-Grande
María
M
Baro
José-Luis
JL
Vivanco
María-Josefa
MJ
Morán-Jiménez
D019943:Amino Acid Substitution; D000747:Anemia, Hypochromic / Q000150:complications / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D002648:Child; D005091:Exons; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D019190:Iron Overload / Q000150:complications / Q000235:genetics*; D008297:Male; D009154:Mutation; D000099236:Solute Carrier Family 11, Member 2
D027682:Cation Transport Proteins; D000099236:Solute Carrier Family 11, Member 2