Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence

BACKGROUND: Genetic aberrations in PAFAH1B1 result in isolated lissencephaly sequence (ILS), a neuronal migration disorder associated with severe mental retardation and intractable epilepsy. Approximately 60 % of patients with ILS show a 17p13.3 deletion or an intragenic variation of PAFAH1B1 that c...

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Detalles Bibliográficos
Autores principales: Takahashi, Satoru, Tanaka, Ryosuke, Okano, Satomi, Okayama, Akie, Suzuki, Nao, Azuma, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628255/
https://www.ncbi.nlm.nih.gov/pubmed/26523152
http://dx.doi.org/10.1186/s13039-015-0186-8

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