Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome

A homozygous mutational change in the Ataxia-Telangiectasia and RAD3 related (ATR) gene was previously reported in two related families displaying Seckel Syndrome (SS). Here, we provide the first identification of a Seckel Syndrome patient with mutations in ATRIP, the gene encoding ATR–Interacting P...

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Detalles Bibliográficos
Autores principales: Ogi, Tomoo, Walker, Sarah, Stiff, Tom, Hobson, Emma, Limsirichaikul, Siripan, Carpenter, Gillian, Prescott, Katrina, Suri, Mohnish, Byrd, Philip J., Matsuse, Michiko, Mitsutake, Norisato, Nakazawa, Yuka, Vasudevan, Pradeep, Barrow, Margaret, Stewart, Grant S., Taylor, A. Malcolm R., O'Driscoll, Mark, Jeggo, Penny A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3493446/
https://www.ncbi.nlm.nih.gov/pubmed/23144622
http://dx.doi.org/10.1371/journal.pgen.1002945

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3493446/
https://www.ncbi.nlm.nih.gov/pubmed/23144622
http://dx.doi.org/10.1371/journal.pgen.1002945

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