Records 1 - 2
| Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family.
Molecular genetics and metabolism reports 2019 Dec 21 100532.
Cullufi P, Tabaku M, Beetz C, Tomori S, Velmishi V, Gjikopulli A, Bauer P, Wirth S, Rolfs
| [Characterization of the genotypes of patients with Gaucher disease type 1 in the Russian Federation].
Terapevticheski? arkhiv 2013 85 (7): 72-5.
Lukina K A, Fevraleva I S, Sysoeva E P, Mamonov B E, Sudarikov A B, Lukina E