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High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia.
Pogoda TV, Krakhmaleva IN, Lipatova NA, Shakhovskaya NI, Shishkin SS, Limborska SA. Pogoda TV, et al. Among authors: limborska sa. Hum Mutat. 2000 Mar;15(3):295. doi: 10.1002/(SICI)1098-1004(200003)15:3<295::AID-HUMU15>3.0.CO;2-8. Hum Mutat. 2000. PMID: 10679950
Apolipoprotein B 3'-VNTR polymorphism in the Udmurt population.
Spitsyn VA, Khorte MV, Pogoda TV, Slominsky PA, Nurbaev SD, Agapova RK, Limborska SA. Spitsyn VA, et al. Among authors: limborska sa. Hum Hered. 2000 Jul-Aug;50(4):224-6. doi: 10.1159/000022919. Hum Hered. 2000. PMID: 10782013
CuZn-superoxide dismutase gene in sporadic amyotrophic lateral sclerosis patients from Russia: Asp90Ala (D90A) mutation and novel rare polymorphism IVS3+35 A>C.
Slominsky PA, Shadrina MI, Kondratyeva EA, Tupitsina TV, Levitsky GN, Skvortsova VI, Limborska SA. Slominsky PA, et al. Among authors: limborska sa. Hum Mutat. 2000 Sep;16(3):277-8. doi: 10.1002/1098-1004(200009)16:3<277::AID-HUMU27>3.0.CO;2-P. Hum Mutat. 2000. PMID: 10980551 No abstract available.
Apolipoprotein B 3'-VNTR polymorphism in Eastern European populations.
Verbenko DA, Pogoda TV, Spitsyn VA, Mikulich AI, Bets LV, Bebyakova NA, Ivanov VP, Abolmasov NN, Pocheshkhova EA, Balanovskaya EV, Tarskaya LA, Sorensen MV, Limborska SA. Verbenko DA, et al. Among authors: limborska sa. Eur J Hum Genet. 2003 Jun;11(6):444-51. doi: 10.1038/sj.ejhg.5200986. Eur J Hum Genet. 2003. PMID: 12774037
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
Mroczek M, Inashkina I, Stavusis J, Zayakin P, Khrunin A, Micule I, Kenina V, Zdanovica A, Zídková J, Fajkusová L, Limborska S, van der Kooi AJ, Brusse E, Leonardis L, Maver A, Pajusalu S, Õunap K, Puusepp S, Dobosz P, Sypniewski M, Burnyte B, Lace B. Mroczek M, et al. Hum Mutat. 2022 Oct;43(10):1347-1353. doi: 10.1002/humu.24421. Epub 2022 Jun 22. Hum Mutat. 2022. PMID: 35731190
155 results