Background: Gaucher’s disease (GD) is an autosomal recessive genetic disorder that results from pathogenic mutations of GBA gene encoding the enzyme glucocerebrosidase (acid β-glucosidase). Of the approximately 300 mutations associated with GD, 4 accounts for the majority of mutations seen in GD pat...

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Bibliographic Details
Main Authors: Tahia H. Saleem, Mohammed H. Hassan, Ahmed El-Abd Ahmed, Ayat A. Sayed, Nahed A. Mohamed, Khalid I. Elsayh, Abdallah M.A.A. El-Ebidi, Norhan B.B. Mohammed
Format: Article
Language:English
Published: SpringerOpen 2017-07-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Gaucher’s disease
Upper Egypt
Clinical types
Genotypes
Online Access:http://www.sciencedirect.com/science/article/pii/S1110863016300696

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http://www.sciencedirect.com/science/article/pii/S1110863016300696

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