Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

Complex cortical malformations associated with mutations in tubulin genes are commonly referred to as “Tubulinopathies”. To further characterize the mutation frequency and phenotypes associated with tubulin mutations, we studied a cohort of 60 foetal cases. Twenty-six tubulin mutations were identifi...

Szczegółowa specyfikacja

Zapisane w:
Opis bibliograficzny
Wydane w:Acta Neuropathol Commun
Główni autorzy: Fallet-Bianco, Catherine, Laquerrière, Annie, Poirier, Karine, Razavi, Ferechte, Guimiot, Fabien, Dias, Patricia, Loeuillet, Laurence, Lascelles, Karine, Beldjord, Cherif, Carion, Nathalie, Toussaint, Aurélie, Revencu, Nicole, Addor, Marie-Claude, Lhermitte, Benoit, Gonzales, Marie, Martinovich, Jelena, Bessieres, Bettina, Marcy-Bonnière, Maryse, Jossic, Frédérique, Marcorelles, Pascale, Loget, Philippe, Chelly, Jamel, Bahi-Buisson, Nadia
Format: Artigo
Język:Inglês
Wydane: BioMed Central 2014
Hasła przedmiotowe:
Research
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4222268/
https://ncbi.nlm.nih.gov/pubmed/25059107
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2051-5960-2-69
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