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...

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محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:Acta Neuropathol Commun
المؤلفون الرئيسيون: 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
التنسيق: Artigo
اللغة:Inglês
منشور في: BioMed Central 2014
الموضوعات:
Research
الوصول للمادة أونلاين: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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