Article
[Characterization of the genotypes of patients with Gaucher disease type 1 in the Russian Federation].
Terapevticheskii arkhiv - 1 Jan 2013
Lukina K A, Fevraleva I S, Sysoeva E P, Mamonov B E, Sudarikov A B, Lukina E A
Abstract excerpt
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 lesions from instrumental findings. An allele-specific real-time polymerase chain reaction assay was used to screen...
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