A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia

Blood

Volumn 102, Issue 2, 2003, Pages 698-704

  Bekri, Soumeya ^b   May, Alison ^b   Cotter, Philip D ^b   Al Sabah, Ala I ^b   Guo, Xiaojun ^b   Masters, Gillian S ^b   Bishop, David F ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

5 AMINOLEVULINATE SYNTHASE; FERRITIN; HEMOGLOBIN; NUCLEOTIDE; PYRIDOXINE; TRANSCRIPTION FACTOR;

ADULT; AMINO ACID SEQUENCE; ARTICLE; BINDING SITE; CASE REPORT; DNA FLANKING REGION; ERYTHROCYTE; FEMALE; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; MOLECULAR BIOLOGY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SIDEROBLASTIC ANEMIA; X CHROMOSOME LINKAGE;

EID: 0037818369     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2002-06-1623     Document Type: Article

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