Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

Caminsky, Natasha; Mucaki, Eliseos J; Rogan, Peter K

Caminsky, Natasha; Mucaki, Eliseos J; Rogan, Peter K.

Afiliación

Caminsky N; Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, ON, N6A 2C1, Canada.
Mucaki EJ; Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, ON, N6A 2C1, Canada.
Rogan PK; Departments of Biochemistry and Computer Science, Western University, London, ON, N6A 2C1, Canada.

F1000Res ; 3: 282, 2014.

Article en En | MEDLINE | ID: mdl-25717368

Palabras clave

genetic disease; mRNA; mutation; rare disease; splicing

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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Guideline Idioma: En Revista: F1000Res Año: 2014 Tipo del documento: Article

Texto completo

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PubMed Links

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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Guideline Idioma: En Revista: F1000Res Año: 2014 Tipo del documento: Article