Publications:

Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies.

Neuropathology And Applied Neurobiology

Vetter, Tatyana A TA; Nicolau, Stefan S; Bradley, Adrienne J AJ; Frair, Emma C EC; Flanigan, Kevin M KM

Publication Date: 2022-04

Variant appearance in text: DMD: 4294C>T

PubMed Link: 34847621

Variant Present in the following documents:

• NAN-48-0.pdf

View BVdb publication page

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: 4294C>T; Gln1432*

PubMed Link: 32813700

Variant Present in the following documents:

• Main text
• pone.0237803.pdf

View BVdb publication page

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.

Human Genetics

Okubo, Mariko M; Noguchi, Satoru S; Hayashi, Shinichiro S; Nakamura, Harumasa H; Komaki, Hirofumi H; Matsuo, Masafumi M; Nishino, Ichizo I

Publication Date: 2020-02

Variant appearance in text: DMD: Gln1432*

PubMed Link: 31919629

Variant Present in the following documents:

• Main text
• 439_2019_Article_2107.pdf

View BVdb publication page