A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing.

Kubo, Yuji; Nishio, Hisahide; Saito, Kayoko

Kubo, Yuji; Nishio, Hisahide; Saito, Kayoko.

Afiliación

Kubo Y; 1] Branch of Genetic Medicine, Advanced Biomedical Engineering and Science, Graduate School of Medicine and Global Center of Excellence (COE) program, Tokyo Women's Medical University, Tokyo, Japan [2] Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan [3] Technical Research Institute, Toppan Printing Co., Ltd, Saitama, Japan.
Nishio H; 1] Department of Community Medicine and Social Health Care, Kobe University Graduate School of Medicine, Kobe, Japan [2] Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Saito K; 1] Branch of Genetic Medicine, Advanced Biomedical Engineering and Science, Graduate School of Medicine and Global Center of Excellence (COE) program, Tokyo Women's Medical University, Tokyo, Japan [2] Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

J Hum Genet ; 60(5): 233-9, 2015 May.

Article en En | MEDLINE | ID: mdl-25716911

Asunto(s)

Análisis Mutacional de ADN; Atrofia Muscular Espinal/genética; Proteína 1 para la Supervivencia de la Neurona Motora/genética; Edad de Inicio; Secuencia de Bases; Estudios de Casos y Controles; Variaciones en el Número de Copia de ADN; Humanos; Linaje; Reacción en Cadena de la Polimerasa; Eliminación de Secuencia

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Análisis Mutacional de ADN / Atrofia Muscular Espinal / Proteína 1 para la Supervivencia de la Neurona Motora Tipo de estudio: Observational_studies Límite: Humans Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Japón

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