Homozygous deletion of the major alpha-globin regulatory element (MCS-R2) responsible for a severe case of hemoglobin H disease

Blood

Volumn 116, Issue 12, 2010, Pages 2193-2194

  Sollaino, Maria Carla ^a   Paglietti, Maria Elisabetta ^a   Loi, Daniela ^a   Congiu, Rita ^a   Podda, Rosanna ^a   Galanello, Renzo ^a  

^a UNIVERSITY OF CAGLIARI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN; PROTEIN MCS R2; UNCLASSIFIED DRUG; HEMOGLOBIN ALPHA CHAIN;

ALPHA THALASSEMIA; CLINICAL FEATURE; DISEASE SEVERITY; DOWN REGULATION; GENE DELETION; GENE EXPRESSION; HEMOGLOBIN H DISEASE; HOMOZYGOSITY; HUMAN; LETTER; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; CASE REPORT; CHILD; GENETICS; HOMOZYGOTE; MALE; PEDIGREE; REGULATORY SEQUENCE;

ALPHA-GLOBINS; ALPHA-THALASSEMIA; CHILD; GENE DELETION; HOMOZYGOTE; HUMANS; MALE; PEDIGREE; REGULATORY ELEMENTS, TRANSCRIPTIONAL;

EID: 77957203411     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2010-04-281345     Document Type: Letter

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