|
Volumn 157, Issue 4, 2012, Pages 514-516
|
The homozygous mutation G75R in the human SLC11A2 gene leads to microcytic anaemia and iron overload
|
Author keywords
Liver iron overload; Microcytic anaemia; SLC11A2; SLC11A2 DMT1
|
Indexed keywords
FERRIC HYDROXIDE;
FERROUS SULFATE;
AMINO ACID SUBSTITUTION;
CASE REPORT;
CHILD;
CLINICAL FEATURE;
CRYPTORCHISM;
DIFFERENTIAL DIAGNOSIS;
DISEASE ASSOCIATION;
DNA SEQUENCE;
ERYTHROCYTE TRANSFUSION;
FOLLOW UP;
GENE;
GENE FUNCTION;
GENE IDENTIFICATION;
GENE LOCATION;
GENE MUTATION;
HEMOSIDEROSIS;
HOMOZYGOSITY;
HUMAN;
HYPERPLASIA;
HYPOSPADIAS;
IRON DEFICIENCY ANEMIA;
IRON DEPLETION;
IRON OVERLOAD;
IRON STORAGE;
LETTER;
MALE;
MALE GENITAL SYSTEM SURGERY;
MEDICAL HISTORY;
MOLECULAR PATHOLOGY;
NUCLEAR MAGNETIC RESONANCE IMAGING;
NUCLEOTIDE SEQUENCE;
POLYMERASE CHAIN REACTION;
PRIORITY JOURNAL;
SCHOOL CHILD;
SEQUENCE ANALYSIS;
SOLUTE CARRIER FAMILY 11 MEMBER 2 GENE;
THERAPY EFFECT;
AMINO ACID SUBSTITUTION;
ANEMIA, HYPOCHROMIC;
CATION TRANSPORT PROTEINS;
CHILD;
EXONS;
GENETIC PREDISPOSITION TO DISEASE;
HOMOZYGOTE;
HUMANS;
IRON OVERLOAD;
MALE;
MUTATION;
|
EID: 84860010841
PISSN: 00071048
EISSN: 13652141
Source Type: Journal
DOI: 10.1111/j.1365-2141.2012.09043.x Document Type: Letter |
Times cited : (9)
|
References (8)
|