SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the "2+0" genotype.

Ceylan, Ahmet Cevdet; Erdem, Haktan Bagis; Sahin, Ibrahim; Agarwal, Meenal

Ceylan, Ahmet Cevdet; Erdem, Haktan Bagis; Sahin, Ibrahim; Agarwal, Meenal.

Afiliación

Ceylan AC; Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey.
Erdem HB; Department of Medical Genetics, Ankara Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.
Sahin I; Department of Medical Genetics, Ankara Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.
Agarwal M; Department of Medical Genetics, GenePath Diagnostics India Private Ltd, Medical Genetics, 1260/B, JM road, Pune, 411004, India. meenal91@gmail.com.

Neurol Sci ; 41(9): 2575-2584, 2020 Sep.

Article en En | MEDLINE | ID: mdl-32249332

Asunto(s)

Variaciones en el Número de Copia de ADN; Atrofia Muscular Espinal; Dosificación de Gen; Genotipo; Humanos; Atrofia Muscular Espinal/diagnóstico; Atrofia Muscular Espinal/genética; Proteína 1 para la Supervivencia de la Neurona Motora/genética; Proteína 2 para la Supervivencia de la Neurona Motora/genética; Tecnología

Palabras clave

CODE-SEQ; Genetic screening/counseling; Molecular genetics; NGS; Spinal muscular atrophy

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal / Variaciones en el Número de Copia de ADN Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Neurol Sci Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Turquía

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