Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients.
Bmc Medical Genetics
Degtyareva, Anna V AV; Proshlyakova, Tatiana Y TY; Gautier, Marina S MS; Degtyarev, Dmitry N DN; Kamenets, Elena A EA; Baydakova, Galina V GV; Rebrikov, Denis V DV; Zakharova, Ekaterina Y EY
The population genetics of human disease: The case of recessive, lethal mutations.
Plos Genetics
Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M
Publication Date: 2017-09
Variant appearance in text: NPC1: 3591+1G>A; rs786200877
Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.
Orphanet Journal Of Rare Diseases
Jahnova, Helena H; Dvorakova, Lenka L; Vlaskova, Hana H; Hulkova, Helena H; Poupetova, Helena H; Hrebicek, Martin M; Jesina, Pavel P