Publications:

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.

Plos One

Torella, Annalaura A; Zanobio, Mariateresa M; Zeuli, Roberta R; Del Vecchio Blanco, Francesca F; Savarese, Marco M; Giugliano, Teresa T; Garofalo, Arcomaria A; Piluso, Giulio G; Politano, Luisa L; Nigro, Vincenzo V

Publication Date: 2020

Variant appearance in text: DMD: 3843G>A; Trp1281*

PubMed Link: 32813700

Variant Present in the following documents:

• Main text
• pone.0237803.pdf

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Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies.

Scientific Reports

Bello, Luca L; Campadello, Paola P; Barp, Andrea A; Fanin, Marina M; Semplicini, Claudio C; Sorarù, Gianni G; Caumo, Luca L; Calore, Chiara C; Angelini, Corrado C; Pegoraro, Elena E

Publication Date: 2016-09-01

Variant appearance in text: DMD: 3843G>A; Trp1281*

PubMed Link: 27582364

Variant Present in the following documents:

• Main text
• srep32439.pdf

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One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

The Journal Of Molecular Diagnostics : Jmd

Torella, Annalaura A; Trimarco, Amelia A; Blanco, Francesca Del Vecchio Fdel V; Cuomo, Anna A; Aurino, Stefania S; Piluso, Giulio G; Minetti, Carlo C; Politano, Luisa L; Nigro, Vincenzo V

Publication Date: 2010-01

Variant appearance in text: DMD: 3843G>A; W1281X

PubMed Link: 19959795

Variant Present in the following documents:

• Main text

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