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Ten new ATM alterations in Polish patients with ataxia-telangiectasia

Inherited biallelic mutations of the ATM gene are responsible for the development of ataxia telangiectasia (AT). The objective of the present study was to conduct molecular analysis of the ATM gene in a cohort of 24 Polish patients with ataxia-telangiectasia with aim being to provide an updated muta...

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Detalles Bibliográficos
Autores principales:	Podralska, Marta Joanna, Stembalska, Agnieszka, Ślęzak, Ryszard, Lewandowicz-Uszyńska, Aleksandra, Pietrucha, Barbara, Kołtan, Sylwia, Wigowska-Sowińska, Jadwiga, Pilch, Jacek, Mosor, Maria, Ziółkowska-Suchanek, Iwona, Dzikiewicz-Krawczyk, Agnieszka, Słomski, Ryszard
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BlackWell Publishing Ltd 2014
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303220/ https://www.ncbi.nlm.nih.gov/pubmed/25614872 http://dx.doi.org/10.1002/mgg3.98

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