Characterization of the genotypes of patients with Gaucher disease type 1 in the Russian Federation

Characterization of the genotypes of patients with Gaucher disease type 1 in the Russian Federation

AIM: To characterize the genotype and genotype-phenotype correlations in patients with Gaucher disease (GD) in the Russian Federation. Materials and methods. One hundred adult patients with GD type 1 were examined. Their clinical study encompassed the evaluation of the severity of osteoarticular les...

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Bibliographic Details
Main Authors: K A Lukina, I S Fevraleva, E P Sysoeva, V E Mamonov, A B Sudarikov, E A Lukina
Format: Article
Language:Russian
Published: "Consilium Medicum" Publishing house 2013-07-01
Series:Терапевтический архив
Subjects:
gaucher disease
glucocerebrosidase gene mutation
osteoarticular lesions
genotype-phenotype correlations
Online Access:https://ter-arkhiv.ru/0040-3660/article/view/31317

Internet

https://ter-arkhiv.ru/0040-3660/article/view/31317

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