Pathophysiology and genetic mutations in congenital sideroblastic anemia

Pediatrics International

Volumn 55, Issue 6, 2013, Pages 675-679

  Fujiwara, Tohru ^a   Harigae, Hideo ^a  

^a TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

ALAS2; congenital sideroblastic anemia; heme; iron; mitochondria

Indexed keywords

MITOCHONDRIAL PROTEIN;

ADENOSINE TRIPHOSPHATE BINDING CASSETTE B7 GENE; CONGENITAL SIDEROBLASTIC ANEMIA; ERYTHROID SPECIFIC DELTA AMINOLEVULINATE SYNTHASE GENE; ERYTHROID SPECIFIC MITOCHONDRIAL TRANSPORTER GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GLUTAREDOXIN 5 GENE; HEME SYNTHESIS; HUMAN; MITOCHONDRIAL TYROSYL TRNA SYNTHASE GENE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN SYNTHESIS; PSEUDOURIDINE SYNTHASE GENE; REVIEW; SIDEROBLASTIC ANEMIA; THIAMINE TRANSPORTER SLC19A2 GENE; ANEMIA, SIDEROBLASTIC; CHILD; GENETICS; MUTATION; X CHROMOSOME LINKED DISORDER;

ANEMIA, SIDEROBLASTIC; CHILD; GENETIC DISEASES, X-LINKED; HUMANS; MUTATION;

EID: 84890488489     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/ped.12217     Document Type: Review

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