Literature DB >> 22065487

Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA.

Juliette Piard1, Christel Depienne, Boris Keren, Estelle Fédirko, Oriane Trouillard, Perrine Charles, Delphine Heron.   

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Year:  2011        PMID： 22065487     DOI： 10.1002/ajmg.a.34334

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  1 in total

Review 1.  Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.

Authors:  Cinthia Aguilera; Marina Viñas-Jornet; Neus Baena; Elisabeth Gabau; Concepción Fernández; Nuria Capdevila; Sanja Cirkovic; Adrijan Sarajlija; Marijana Miskovic; Danijela Radivojevic; Anna Ruiz; Miriam Guitart
Journal:  BMC Med Genet       Date:  2017-11-21       Impact factor: 2.103
  1 in total

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