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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Acta Neuropathol Commun
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2014
विषय:
Research
ऑनलाइन पहुंच: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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