Work

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49–51

Year: 2010

Type: article

Source: Journal of Human Genetics

DOI: 10.1038/jhg.2010.60

Authors: Rosário Santos, Jorge Oliveira, Emília Vieira, Teresa Coelho, António Leite Carneiro, Teresinha Evangelista, Cristina Dias, Ana Fortuna, Argemiro Geraldo, Luís Negrão, António Guimarães, Elsa Bronze-da-Rocha

Institutions: National Institute of Health Dr. Ricardo Jorge, Centro Hospitalar do Porto, Hospital de Santa Maria, Unidade Local de Saúde de Coimbra, Universidade do Porto, Instituto de Biologia Molecular e Celular

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W1979953293

FWCI: 0.319

Cites: 15

Cited by: 15

Related to: 10