Targeted next generation sequencing for molecular diagnosis of Usher syndrome

被引：0
|
作者：
María J Aparisi
Elena Aller
Carla Fuster-García
Gema García-García
Regina Rodrigo
Rafael P Vázquez-Manrique
Fiona Blanco-Kelly
Carmen Ayuso
Anne-Françoise Roux
Teresa Jaijo
José M Millán
机构：
[1] Hospital Universitario La Fe,Grupo de Investigación en Enfermedades Neurosensoriales. Instituto de Investigación Sanitaria IIS
[2] CIBER de Enfermedades Raras (CIBERER),La Fe, Semisótano Escuela de Enfermería
[3] University Hospital,Servicio de Genética, IIS
[4] UAM, Fundación Jiménez Díaz
[5] CHU Montpellier,undefined
[6] Laboratoire de Génétique Moléculaire and Inserm,undefined
[7] U827,undefined
[8] Unidad de Genética y Diagnóstico Prenatal,undefined
[9] Hospital Universitario y Politécnico La Fe,undefined
来源：
Orphanet Journal of Rare Diseases | / 9卷
关键词：
Usher syndrome; Molecular diagnosis; Next generation sequencing; Point mutations; Large rearrangements;
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