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pro vyhledávání: '"Fátima Ló pez González"'
Autor:
Blanca Serrano Serrano, Fátima Ló pez González, Catalina Diaz Urrea, Adolfo Heras Pérez, Rosa Maria Garcia Tercero, Pedro Barredo Benitez, Javier Gualda Heras, Nicolás López Hernández, Elena Elvira Soler
Publikováno v:
Ultrasound International Open, Vol 04, Iss 01, Pp E35-E36 (2018)
Ultrasound International Open
Ultrasound International Open
Autor:
Adolfo Heras Pérez, Catalina Diaz Urrea, Carmina Díaz Marín, Fátima Ló pez González, Elena Elvira Soler, Rosa Maria Garcia Tercero, Javier Gualda Heras, Pedro Barredo Benitez, Blanca Serrano Serrano
Publikováno v:
Journal of Neurological Disorders.
Introduction: Friedreich ataxia (FRDA) is the most common hereditary ataxia now. It is inherited as an autosomal recessive disease. Most of the patients are homozygotes, with an expansion of a GAA triplet in both alleles of the first intron of the fr