A novel 506kb deletion causing εγδβ thalassemia

Blood Cells, Molecules, and Diseases

Volumn 49, Issue 3-4, 2012, Pages 121-127

  Rooks, Helen ^a   Clark, Barnaby ^b   Best, Steve ^a   Rushton, Peter ^b   Oakley, Matthew ^b   Thein, Onn Shaun ^b,d   Cuthbert, Ann C ^c   Britland, Alison ^c   Ruf, Afruj ^c   Thein, Swee Lay ^a,b  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^c AIREDALE GENERAL HOSPITAL   (United Kingdom)

^d UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

thalassemia; Array CGH; MLPA (Multiplex Ligation dependent Probe Amplification); Palindrome

Indexed keywords

BETA GLOBIN; EPSILON GLOBIN;

ARTICLE; DNA DETERMINATION; DNA INVERSION; DOWN REGULATION; EPSILON GAMMA DELTA BETA THALASSEMIA; GENE; GENE CLUSTER; GENE DELETION; GENE INSERTION; GENETIC RECOMBINATION; HBB GENE; HBE GENE; HUMAN; HUMAN CELL; INFANT; MALE; NUCLEOTIDE SEQUENCE; PALINDROME; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE HOMOLOGY; THALASSEMIA; TRINUCLEOTIDE REPEAT; UPREGULATION;

ADULT; BASE SEQUENCE; BETA-GLOBINS; BETA-THALASSEMIA; CHROMOSOME BREAKPOINTS; CHROMOSOMES, HUMAN, PAIR 11; DELTA-GLOBINS; DELTA-THALASSEMIA; EPSILON-GLOBINS; FEMALE; GAMMA-GLOBINS; HOMOLOGOUS RECOMBINATION; HUMANS; INFANT; INVERTED REPEAT SEQUENCES; LONG INTERSPERSED NUCLEOTIDE ELEMENTS; MALE; MOLECULAR SEQUENCE DATA; MULTIGENE FAMILY; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84865984158     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2012.05.010     Document Type: Article

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