Homozygous Mutation on the ß-Globin Polyadenylation Signal in a Tunisian Patient with ß-Thalassemia Intermedia and Coinheritance of Gilbert's Syndrome.

Haddad, Faten; Trabelsi, Nawel; Chaouch, Leila; Darragi, Imen; Oueslati, Meriem; Boudriga, Imen; Chaouachi, Dorra; El-Borgi, Wijdene; Hafsia, Raouf; Abbes, Salem; Ouragini, Houyem

Haddad, Faten; Trabelsi, Nawel; Chaouch, Leila; Darragi, Imen; Oueslati, Meriem; Boudriga, Imen; Chaouachi, Dorra; El-Borgi, Wijdene; Hafsia, Raouf; Abbes, Salem; Ouragini, Houyem.

Afiliação

Haddad F; a Laboratory of Molecular and Cellular Hematology , Pasteur Institute of Tunis-Tunis El Manar University , Tunis , Tunisia.
Trabelsi N; a Laboratory of Molecular and Cellular Hematology , Pasteur Institute of Tunis-Tunis El Manar University , Tunis , Tunisia.
Chaouch L; a Laboratory of Molecular and Cellular Hematology , Pasteur Institute of Tunis-Tunis El Manar University , Tunis , Tunisia.
Darragi I; a Laboratory of Molecular and Cellular Hematology , Pasteur Institute of Tunis-Tunis El Manar University , Tunis , Tunisia.
Oueslati M; b Laboratory of Biological Hematology , Aziza Othmana Hospital-Tunis El Manar University , Tunis , Tunisia.
Boudriga I; a Laboratory of Molecular and Cellular Hematology , Pasteur Institute of Tunis-Tunis El Manar University , Tunis , Tunisia.
Chaouachi D; a Laboratory of Molecular and Cellular Hematology , Pasteur Institute of Tunis-Tunis El Manar University , Tunis , Tunisia.
El-Borgi W; b Laboratory of Biological Hematology , Aziza Othmana Hospital-Tunis El Manar University , Tunis , Tunisia.
Hafsia R; b Laboratory of Biological Hematology , Aziza Othmana Hospital-Tunis El Manar University , Tunis , Tunisia.
Abbes S; a Laboratory of Molecular and Cellular Hematology , Pasteur Institute of Tunis-Tunis El Manar University , Tunis , Tunisia.
Ouragini H; a Laboratory of Molecular and Cellular Hematology , Pasteur Institute of Tunis-Tunis El Manar University , Tunis , Tunisia.

Hemoglobin ; 41(2): 147-150, 2017 Mar.

Article em En | MEDLINE | ID: mdl-28592168

Assuntos

Doença de Gilbert/genética; Glucuronosiltransferase/genética; Mutação; Sinais de Poliadenilação na Ponta 3' do RNA; Globinas beta/genética; Talassemia beta/genética; Humanos; Masculino; Pessoa de Meia-Idade; Tunísia

Palavras-chave

Gilbert's syndrome coinheritance; Tunisian patient; haplotype; homozygous polyadenylation (polyA) signal mutation; ß-Thalassemia intermedia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glucuronosiltransferase / Talassemia beta / Sinais de Poliadenilação na Ponta 3' do RNA / Globinas beta / Doença de Gilbert / Mutação Limite: Humans / Male / Middle aged País/Região como assunto: Africa Idioma: En Revista: Hemoglobin Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Tunísia

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