Co-inheritance of novel ATRX gene mutation and globin (&#945; & ß) gene mutations in transfusion dependent beta-thalassemia patients.

Al-Nafie, Awatif N; Borgio, J Francis; AbdulAzeez, Sayed; Al-Suliman, Ahmed M; Qaw, Fuad S; Naserullah, Zaki A; Al-Jarrash, Sana; Al-Madan, Mohammed S; Al-Ali, Rudaynah A; AlKhalifah, Mohammed A; Al-Muhanna, Fahad; Steinberg, Martin H; Al-Ali, Amein K

Co-inheritance of novel ATRX gene mutation and globin (α & ß) gene mutations in transfusion dependent beta-thalassemia patients.

Al-Nafie, Awatif N; Borgio, J Francis; AbdulAzeez, Sayed; Al-Suliman, Ahmed M; Qaw, Fuad S; Naserullah, Zaki A; Al-Jarrash, Sana; Al-Madan, Mohammed S; Al-Ali, Rudaynah A; AlKhalifah, Mohammed A; Al-Muhanna, Fahad; Steinberg, Martin H; Al-Ali, Amein K.

Afiliação

Al-Nafie AN; Department of Pathology, University of Dammam, Dammam, Saudi Arabia.
Borgio JF; Centre for Medical Research and Consultation, University of Dammam, Dammam, Saudi Arabia. Electronic address: borgiomicro@gmail.com.
AbdulAzeez S; Centre for Medical Research and Consultation, University of Dammam, Dammam, Saudi Arabia.
Al-Suliman AM; Al-Omran Scientific Chair for Hematological Diseases in Al-Ahsa, King Faisal University, Al-Ahsa, Saudi Arabia; Department of Hematology, King Fahd Hospital, Al-Ahsa, Saudi Arabia.
Qaw FS; Department of Biochemistry, University of Dammam, Dammam, Saudi Arabia.
Naserullah ZA; Dammam Maternity and Child Hospital, Dammam, Saudi Arabia.
Al-Jarrash S; Dammam Maternity and Child Hospital, Dammam, Saudi Arabia.
Al-Madan MS; Department of Pediatrics, King Fahd Hospital of the University, Al-Khobar, Saudi Arabia.
Al-Ali RA; Department of Internal Medicine, King Fahd Hospital of the University, Al-Khobar, Saudi Arabia.
AlKhalifah MA; Qatif Central Hospital, Qatif, Saudi Arabia.
Al-Muhanna F; Department of Internal Medicine, King Fahd Hospital of the University, Al-Khobar, Saudi Arabia.
Steinberg MH; Center of Excellence in Sickle Cell Disease, Department of Medicine, Boston University School of Medicine, Boston, MA, USA.
Al-Ali AK; Centre for Medical Research and Consultation, University of Dammam, Dammam, Saudi Arabia.

Blood Cells Mol Dis ; 55(1): 27-9, 2015 Jun.

Article em En | MEDLINE | ID: mdl-25976463

Assuntos

DNA Helicases/genética; Deficiência Intelectual Ligada ao Cromossomo X/genética; Mutação; Proteínas Nucleares/genética; alfa-Globinas/genética; Talassemia alfa/genética; Globinas beta/genética; Talassemia beta/genética; Adolescente; Adulto; Sequência de Bases; Transfusão de Sangue; Éxons; Feminino; Heterozigoto; Homozigoto; Humanos; Íntrons; Masculino; Deficiência Intelectual Ligada ao Cromossomo X/complicações; Deficiência Intelectual Ligada ao Cromossomo X/patologia; Deficiência Intelectual Ligada ao Cromossomo X/terapia; Dados de Sequência Molecular; Linhagem; Arábia Saudita; Proteína Nuclear Ligada ao X; Talassemia alfa/complicações; Talassemia alfa/patologia; Talassemia alfa/terapia; Talassemia beta/complicações; Talassemia beta/patologia; Talassemia beta/terapia

Palavras-chave

ATRX gene; Mental retardation; α-thalassemia; ß-thalassemia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Talassemia beta / Talassemia alfa / DNA Helicases / Deficiência Intelectual Ligada ao Cromossomo X / Alfa-Globinas / Globinas beta / Mutação Tipo de estudo: Risk_factors_studies Limite: Adolescent / Adult / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Blood Cells Mol Dis Assunto da revista: HEMATOLOGIA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Arábia Saudita

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