A deletion of 11 bp (CD 131-134) in exon 3 of the β-globin gene produces the phenotype of inclusion body β-thalassemia

Annals of Hematology

Volumn 84, Issue 9, 2005, Pages 584-587

  Ropero, Paloma ^a   Villegas, Ana ^a   Martínez, Miguel ^b   González Fernández, Fernando Ataulfo ^a   Benavente, Celina ^a   Mateo, Marta ^a  

^a HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^b HOSPITAL GENERAL DE SEGOVIA   (Spain)

Author keywords

Inclusion body thalassemia

Indexed keywords

BETA GLOBIN;

ADULT; ALPHA CHAIN; AMINO ACID SEQUENCE; ANION EXCHANGE CHROMATOGRAPHY; ARTICLE; BETA CHAIN; BETA THALASSEMIA; BLOOD ANALYSIS; CASE REPORT; CELL INCLUSION; CLINICAL FEATURE; DISEASE SEVERITY; EXON; GENE DELETION; GENE MUTATION; GENETIC PREDISPOSITION; HEMATOPOIETIC STEM CELL; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN PROTEIN INTERACTION; PROTEIN SECONDARY STRUCTURE; PROTEIN VARIANT;

BETA-THALASSEMIA; DNA MUTATIONAL ANALYSIS; EXONS; FRAMESHIFT MUTATION; GENES, DOMINANT; GLOBINS; HEME; HEMOGLOBINS, ABNORMAL; HUMANS; INCLUSION BODIES; MALE; MIDDLE AGED; PEPTIDE HYDROLASES; PHENOTYPE; PROTEIN STRUCTURE, SECONDARY; SEQUENCE DELETION;

EID: 23944498381     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-004-0992-2     Document Type: Article

References (16)

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