Publications:

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.

Plos One

Juan-Mateu, Jonas J; Gonzalez-Quereda, Lidia L; Rodriguez, Maria Jose MJ; Baena, Manel M; Verdura, Edgard E; Nascimento, Andres A; Ortez, Carlos C; Baiget, Montserrat M; Gallano, Pia P

Publication Date: 2015

Variant appearance in text: DMD: Leu427Pro

PubMed Link: 26284620

Variant Present in the following documents:

• Main text
• pone.0135189.pdf

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Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy.

The Journal Of Biological Chemistry

Acsadi, Gyula G; Moore, Steven A SA; Chéron, Angélique A; Delalande, Olivier O; Bennett, Lindsey L; Kupsky, William W; El-Baba, Mohammad M; Le Rumeur, Elisabeth E; Hubert, Jean-François JF

Publication Date: 2012-05-25

Variant appearance in text: DMD: 1280T>C; L427P

PubMed Link: 22453924

Variant Present in the following documents:

• Main text

View BVdb publication page