Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?

被引：0
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作者：
Cinthia Aguilera
Anna Esteve-Garcia
Carlos Casasnovas
Valentina Vélez-Santamaria
Laura Rausell
Pablo Gargallo
Javier Garcia-Planells
Pedro Alía
Núria Llecha
Ariadna Padró-Miquel
机构：
[1] Laboratori Clínic Territorial Metropolitana Sud. Hospital Universitari de Bellvitge,Genetics Laboratory
[2] Institut d’Investigació Biomèdica de Bellvitge (IDIBELL),Clinical Genetics Unit
[3] Laboratori Clínic Territorial Metropolitana Sud. Hospital Universitari de Bellvitge,Neuromuscular Unit, Neurology Department
[4] Institut d’Investigació Biomèdica de Bellvitge (IDIBELL),Neurometabolic Diseases Group
[5] Hospital Universitari de Bellvitge,undefined
[6] Institut d’Investigació Biomèdica de Bellvitge (IDIBELL),undefined
[7] Institut d’Investigació Biomèdica de Bellvitge (IDIBELL),undefined
[8] Biomedical Research Network Centre in Rare Diseases (CIBERER),undefined
[9] Health in Code S.L,undefined
来源：
BMC Medical Genomics | / 16卷
关键词：
Friedreich ataxia (FRDA); Deletion; Biallelic expansion; Parental testing;
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