Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin

European Journal of Human Genetics

Volumn 23, Issue 10, 2015, Pages 1341-1348

  Huang, Jiwei ^a   Zhang, Xinhua ^b   Liu, Dun ^a   Wei, Xiaofeng ^a   Shang, Xuan ^a   Xiong, Fu ^a   Yu, Lihua ^a   Yin, Xiaolin ^b   Xu, Xiangmin ^a  

^a SOUTHERN MEDICAL UNIVERSITY   (China)

^b The 303rd Hospital of PLA   (China)

Author keywords

[No Author keywords available]

Indexed keywords

BCL11A PROTEIN; HBB PROTEIN; HEMOGLOBIN BETA CHAIN; HEMOGLOBIN F; HEMOGLOBIN GAMMA CHAIN; HEMOGLOBIN VARIANT; HERMES ANTIGEN; KRUPPEL LIKE FACTOR; KRUPPEL LIKE FACTOR 1; PROTEIN; UNCLASSIFIED DRUG; CODON; ERYTHROID KRUPPEL-LIKE FACTOR; TRANSCRIPTION FACTOR; ZINC FINGER PROTEIN;

ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CHILD; CHINESE; CONTROLLED STUDY; DNA BINDING MOTIF; DYSERYTHROPOIESIS; ERYTHROPOIESIS; FRAMESHIFT MUTATION; GENE MUTATION; HEMOLYSIS; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; HYPERPLASIA; IRON DEFICIENCY ANEMIA; MALE; MICROCYTOSIS; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; PRESCHOOL CHILD; PRIORITY JOURNAL; REFRACTORY ANEMIA; RETICULOCYTE COUNT; SCHOOL CHILD; THALASSEMIA; THALASSEMIA INTERMEDIA; AMINO ACID SEQUENCE; CHINA; CODON; GENETICS; HEMATOLOGIC DISEASE; HETEROZYGOTE; K-562 CELL LINE; MOLECULAR GENETICS; MUTATION; PHENOTYPE; PROMOTER REGION; PROTEIN TERTIARY STRUCTURE; SEQUENCE ALIGNMENT; TUMOR CELL LINE;

AMINO ACID SEQUENCE; ANEMIA, HYPOCHROMIC; CELL LINE, TUMOR; CHILD; CHILD, PRESCHOOL; CHINA; CODON; ERYTHROPOIESIS; FETAL HEMOGLOBIN; HEMATOLOGIC DISEASES; HETEROZYGOTE; HUMANS; K562 CELLS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PROMOTER REGIONS, GENETIC; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ALIGNMENT; TRANSCRIPTION FACTORS; ZINC FINGERS;

EID: 84944167274     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.291     Document Type: Article

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