Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia

Proceedings of the National Academy of Sciences of the United States of America

Volumn 105, Issue 5, 2008, Pages 1620-1625

  Uda, Manuela ^a   Galanello, Renzo ^b,c   Sanna, Serena ^a   Lettre, Guillaume ^d,e   Sankaran, Vijay G ^d,f   Chen, Weimin ^g   Usala, Gianluca ^a   Busonero, Fabio ^a   Maschio, Andrea ^a   Albai, Giuseppe ^a   Piras, Maria Grazia ^a   Sestu, Natascia ^a   Lai, Sandra ^a   Dei, Mariano ^a   Mulas, Antonella ^a   Crisponi, Laura ^a   Naitza, Silvia ^a   Asunis, Isadora ^a   Deiana, Manila ^a   Nagaraja, Ramaiah ^h   Perseu, Lucia ^a   Satta, Stefania ^b,c   Cipollina, Maria Dolores ^b,c   Sollaino, Carla ^b,c   Moi, Paolo ^b,c   Hirschhorn, Joel N ^d,e   Orkin, Stuart H ^d,f   Abecasis, Gonçalo R ^g   Schlessinger, David ^h   Cao, Antonio ^a   more..

^a CNR   (Italy)

^b Osp Regionale per le Microcitemie   (Italy)

^c UNIVERSITY OF CAGLIARI   (Italy)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^f DANA FARBER CANCER INSTITUTE   (United States)

^g UNIVERSITY OF MICHIGAN   (United States)

^h NATIONAL INSTITUTE ON AGING   (United States)

Author keywords

Globin gene regulation; Polymorphism; Sickle cell anemia

Indexed keywords

HEMOGLOBIN F; BCL11A PROTEIN, HUMAN; CARRIER PROTEIN; NUCLEAR PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; BCL11A GENE; BETA THALASSEMIA; CONTROLLED STUDY; FEMALE; FETUS; GENE CONTROL; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENOME; GLOBIN GENE; HUMAN; HUMAN TISSUE; ITALY; MALE; PHENOTYPE; PRIORITY JOURNAL; SICKLE CELL ANEMIA; SINGLE NUCLEOTIDE POLYMORPHISM; THALASSEMIA MAJOR; COHORT ANALYSIS; GENETICS; METABOLISM; MIDDLE AGED;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BETA-THALASSEMIA; CARRIER PROTEINS; COHORT STUDIES; FEMALE; FETAL HEMOGLOBIN; GENE FREQUENCY; GENOME, HUMAN; HUMANS; ITALY; LINKAGE (GENETICS); MALE; MIDDLE AGED; NUCLEAR PROTEINS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 40349092939     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0711566105     Document Type: Article

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