Glucosidase acid beta gene mutations in Egyptian children with Gaucher disease and relation to disease phenotypes |
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| Authors: | Zakarya El-Morsy Mohamed T. Khashaba Othman El-Sayed Soliman Sohier Yahia Dina Abd El-Hady |
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| Affiliation: | 1.Department of Pediatrics, Faculty of Medicine,Mansoura University,Mansoura,Egypt;2.Mansoura University Children’s Hospital El-Gomhoria St,Mansoura,Egypt |
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| Abstract: | Introduction More than 200 mutations have been found in patients with Gaucher disease (GD) and some mutations usually have a high frequency in certain populations. Genotype/phenotype correlation in patients with GD has not been established. This study was designed to determine underlying mutations in Egyptian children with GD and to assess their relation to disease phenotypes. |
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