首页> Clinical genetics> Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome.

Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome.

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第一作者： Miriam,Essid

第一单位： Genetics Department, Hospices Civils de Lyon, Lyon, France.;Neuromyogene Institute, Pathology and Genetics of Neuron and Muscle, CNRS UMR 5261 INSERM U1315, Université Claude Bernard Lyon 1, Lyon, France.;Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.

作者： Miriam,Essid ^[1] ; Sana,Karoui ^[2] ; Mouna,Zribi ^[3] ; Thouraya,Ben Younes ^[4] ; Louis,Januel ^[5] ; Estelle,Lafont ^[5] ; Audrey,Labalme ^[5] ; Meriem,Ben Hafsa ^[4] ; Go,Hun Seo ^[6] ; Safa,Khatrouch ^[3] ; Hela,Boudabous ^[3] ; Amel,Ben Chehida ^[3] ; Damien,Sanlaville ^[7] ; Houweyda,Jilani ^[2] ; Lamia,Benjemaa ^[2] ; Ichraf,Kraoua ^[4] ; Gaetan,Lesca ^[7] ; Nicolas,Chatron ^[7]

作者单位： Genetics Department, Hospices Civils de Lyon, Lyon, France.;Neuromyogene Institute, Pathology and Genetics of Neuron and Muscle, CNRS UMR 5261 INSERM U1315, Université Claude Bernard Lyon 1, Lyon, France.;Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia. ^[1] Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.;Genetic Department, LR22SP01, Mongi Slim Hospital, La Marsa, Tunisia. ^[2] Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.;Department of Pediatrics and Hereditary Metabolic Diseases, LR12SP02, La Rabta Hospital, Tunis, Tunisia. ^[3] Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.;Department of Child and Adolescent Neurology, LR18SP04, National Institute Mongi Ben Hmida of Neurology, La Rabta, Tunisia. ^[4] Genetics Department, Hospices Civils de Lyon, Lyon, France. ^[5] Division of Medical Genetics, 3billion Inc., Seoul, South Korea. ^[6] Genetics Department, Hospices Civils de Lyon, Lyon, France.;Neuromyogene Institute, Pathology and Genetics of Neuron and Muscle, CNRS UMR 5261 INSERM U1315, Université Claude Bernard Lyon 1, Lyon, France. ^[7]

关键词 ROGDI Kohlschütter‐T?nz Syndrome long‐read sequencing splicing variant