Mosaic segmental uniparental isodisomy and progressive clonal selection: A common mechanism of late onset β-thalassemia major

Haematologica

Volumn 98, Issue 5, 2013, Pages 691-695

  Harteveld, Cornelis L ^a   Refaldi, Chiara ^b   Giambona, Antonino ^c   Ruivenkamp, Claudia A L ^a   Hoffer, Mariëtte J V ^a   Pijpe, Jeroen ^a   De Knijff, Peter ^a   Borgna Pignatti, Caterina ^d   Maggio, Aurelio ^c   Cappellini, Maria D ^b   Giordano, Piero C ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF MILAN   (Italy)

^c Azienda Ospedaliera Vincenzo C   (Italy)

^d UNIVERSITY OF FERRARA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; HEMOGLOBIN BETA CHAIN; HEMOGLOBIN F; RNA H19; SOMATOMEDIN B RECEPTOR;

ARTICLE; BETA THALASSEMIA; CELL SELECTION; CHROMOSOME 11P; DNA ISOLATION; DNA SEQUENCE; FEMALE; HETEROZYGOSITY LOSS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MULTIPLEX POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; THALASSEMIA MAJOR; UNIPARENTAL DISOMY; ADOLESCENT; ADULT; AGE; ALLELE; BETA-THALASSEMIA; CASE REPORT; CHILD; CHROMOSOME 11; GENE FREQUENCY; GENETICS; GENOTYPE; METABOLISM; MOSAICISM; MUTATION; PEDIGREE; YOUNG ADULT;

ADOLESCENT; ADULT; AGE FACTORS; ALLELES; BETA-GLOBINS; BETA-THALASSEMIA; CHILD; CHROMOSOMES, HUMAN, PAIR 11; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; MALE; MOSAICISM; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; UNIPARENTAL DISOMY; YOUNG ADULT;

EID: 84877037624     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2012.065219     Document Type: Article

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