Article
[Gene mutations in patients with hereditary cavernous malformations].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2000
Belousova O B, Bulygina E S, Okishev D N, Prohorchuk E B, Tsygankova S V, Pronin I N, Shishkina L V, Ryzhova M V, Skryabin K G, Konovalov A N
Abstract excerpt
AIM: To identify mutations in cerebral cavernous malformation (CCM) genes in patients with hereditary and sporadic CCMs in the Russian population. MATERIAL AND METHODS: Blood samples from 73 randomly selected patients, including 29 MRI-confirmed familial cases, 8 clinically confirmed familial cases and 38 so-called sporadic cases, were examined. A search for large deletions/duplications was performed using...
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