Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients

Gaucher's disease (GD) is the most frequent lysosomal storage disorder resulting from a deficiency of the enzyme glucocerebrosidase (GBA) which causes the accumulation of glucocerebroside. More than 500 mutations have been reported on the GBA gene so far. In this study, we aimed to investigate...

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Detalles Bibliográficos
Autores principales: Sardarpour, Negar, Bagherian, Hamideh, Zafarghandi Motlagh, Fatemeh, Shirzadeh, Tina, Asnavandi, Sadaf, Younesikhah, Shahrzad, Salehpour, Shadab, Setoodeh, Aria, Alaei, Mohammad Reza, Zeinali, Sirous
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Babol University of Medical Sciences 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10629722/
https://www.ncbi.nlm.nih.gov/pubmed/37942259
http://dx.doi.org/10.22088/IJMCM.BUMS.12.1.40

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10629722/
https://www.ncbi.nlm.nih.gov/pubmed/37942259
http://dx.doi.org/10.22088/IJMCM.BUMS.12.1.40

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