Zobrazeno 1 - 6 of 6 pro vyhledávání: '"Ahmad, Shoujaa"'
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Genotype/Phenotype Correlation of β-Thalassemia in Syrian Patients: A Cross-Sectional Study
Autor: Ahmad Shoujaa, Faten Moasses, Hossam Murad, Yasser Mukhalalaty, Faizeh Al-Quobaili
Publikováno v: Hemoglobin. 44:42-46
β-Thalassemia (β-thal) is an inherited blood disorder caused by reduced or absent synthesis of β-globin chains leading to imbalance of globin chain synthesis. β0-Thalassemia (β0-thal), refers to the complete absence of β-globin chain production
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19d56b705ada3d1f11819380c2264731
https://doi.org/10.1080/03630269.2019.1709207
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Description of a rare β-globin gene mutation, IVS-II-848 (C>A) (HBB: c.316-3C>A) in association with IVS-I-1 (G>A) (HBB: c.92 + 1G>A), observed in a Syrian family: a case report
Autor: Yasser Mukhalalaty, Ahmad Shoujaa, Faizeh Al-Quobaili, Hossam Murad
Publikováno v: Hemoglobin. 43:283-285
β-Thalassemia (β-thal) is a hereditary and heterogeneous group of disorders caused by mutations on the β-globin gene that result in the reduced or non production of β-globin chains. We report a rare β-globin mutation, IVS-II-848 (C>A) (HBB: c.31
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a459ba2b2f91adb162a01f32cec48e4c
https://doi.org/10.1080/03630269.2019.1670206
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5
Description of a rare β-globin gene mutation, IVS-II-848 (CA) (
Autor: Ahmad, Shoujaa, Yasser, Mukhalalaty, Hossam, Murad, Faizeh, Al-Quobaili
Publikováno v: Hemoglobin. 43(4-5)
β-Thalassemia (β-thal) is a hereditary and heterogeneous group of disorders caused by mutations on the β-globin gene that result in the reduced or non production of β-globin chains. We report a rare β-globin mutation, IVS-II-848 (CA) (
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c086b2c63c66340f96467063b96622e2
https://pubmed.ncbi.nlm.nih.gov/31718331
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6
A First Case of Hemoglobin Castilla [Beta 32(B14) Leu>Arg; HBB: c.98T>G] Associated with [IVS-I-1 (G>A); HBB:c.92+1G>A] Mutation Found in a Syrian Betathalassemia Patient
Autor: Faizeh Al-Quobaili, Yasser Mukhalalaty, Hossam Murad, Ahmad Shoujaa
Publikováno v: Thalassemia Reports. 10:8396
Beta thalassemia (β-thal) is one of the most common worldwide inherited hemoglobinopathies. Proper identification and diagnosis of hemoglobin (Hb) variants provide a major challenge. In this report, we describe a 1-year-old boy, presented with the d
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::58e00abf8ca6fc2530b35476d5818040
https://doi.org/10.4081/thal.2020.8396
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