Detection of a rare splice acceptor site mutation (IVS I nt 130 G→C) of the β globin gene in 3 patients of Eastern India [3]

American Journal of Hematology

Volumn 67, Issue 2, 2001, Pages 149-

  Civardi, Giuseppe ^a,h   Vallisa, Daniele ^a   Bertè, Raffaella ^a   Giorgio, Antonio ^b   Filice, Carlo ^c   Caremani, Marcello ^d   Caturelli, Eugenio ^e   Pompili, Maurizio ^f   De Sio, Ilario ^g   Buscarini, Elisabetta ^a   Cavanna, Luigi ^a  

^a Ospedale Civile   (Italy)

^b Azienda Ospedaliera di Rilievo Nazionale D Cotugno   (Italy)

^c FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^d Ospedale di Arezzo   (Italy)

^e CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^f CATHOLIC UNIVERSITY   (Italy)

^g SECOND UNIVERSITY OF NAPLES   (Italy)

^h City Hospital   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; DNA;

BETA THALASSEMIA; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN CELL; INDIA; LETTER; MALE; PRIORITY JOURNAL; THALASSEMIA;

CHILD; DNA MUTATIONAL ANALYSIS; GLOBINS; HUMANS; INDIA; MALE; POINT MUTATION; RNA SPLICE SITES; THALASSEMIA;

EID: 37649026095     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajh.1097     Document Type: Letter

References (4)

1. Regional distribution of β thalassemia mutations in India
2. Detection of mutations in multi-exon genes, comparison of conformation sensitive gel electrophoresis and sequencing strategies with respect to cost and time for finding mutations
3. Major β-globin gene mutations in Eastern India and their associated haplotypes
4. The particular spectrum of β thalassemia genes in Tunisia