Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia

Haematologica

Volumn 99, Issue 2, 2014, Pages 252-261

  Kaneko, Kiriko ^a   Furuyama, Kazumichi ^a,d   Fujiwara, Tohru ^a   Kobayashi, Ryoji ^b   Ishida, Hiroyuki ^c   Harigae, Hideo ^a   Shibahara, Shigeki ^a  

^a TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b SAPPORO HOKUYU HOSPITAL   (Japan)

^c KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^d IWATE MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

5 AMINOLEVULINATE SYNTHASE; ERYTHROID KRUPPEL LIKE FACTOR; PYRIDOXINE; TRANSCRIPTION FACTOR GATA 1;

ARTICLE; CHROMATIN IMMUNOPRECIPITATION; CLINICAL ARTICLE; CONTROLLED STUDY; ENHANCER REGION; FEMALE; GEL MOBILITY SHIFT ASSAY; GENETIC ANALYSIS; HEME SYNTHESIS; HUMAN; HUMAN CELL; INTRON RETENTION; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; SIDEROBLASTIC ANEMIA;

5-AMINOLEVULINATE SYNTHETASE; ANEMIA, SIDEROBLASTIC; ENHANCER ELEMENTS, GENETIC; GATA1 TRANSCRIPTION FACTOR; HUMANS; K562 CELLS; MALE; MUTATION; RESPONSE ELEMENTS;

EID: 84896689530     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2013.085449     Document Type: Article

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