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

Journal of Human Genetics

Volumn 55, Issue 8, 2010, Pages 546-549

  Santos, Rosário ^a,f   Oliveira, Jorge ^a   Vieira, Emília ^a   Coelho, Teresa ^b   Carneiro, António Leite ^c   Evangelista, Teresinha ^d   Dias, Cristina ^a   Fortuna, Ana ^a   Geraldo, Argemiro ^e   Negro, Luís ^e   Guimares, António ^b   Bronze Da Rocha, Elsa ^f,g  

^a NATIONAL INSTITUTE OF HEALTH   (Portugal)

^b Centro Hospitalar Universitario do Porto   (Portugal)

^c Hospital Regional Militar No 1   (Portugal)

^d HOSPITAL DE SANTA MARIA   (Portugal)

^e CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^f UNIVERSITY OF PORTO   (Portugal)

^g UNIVERSITY OF PORTO   (Portugal)

Author keywords

alternative splicing; clinical heterogeneity; dysferlin; exon skipping; founder effect

Indexed keywords

DYSFERLIN;

ADULT; ARTICLE; BLOOD; CLINICAL ARTICLE; CONTROLLED STUDY; EXON SKIPPING; FEMALE; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SCREENING; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; LEUKOCYTE; MALE; MUSCLE; PATIENT; POPULATION GENETICS; PORTUGAL; QUANTITATIVE ANALYSIS; RNA SPLICING;

EID: 77957573173     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.60     Document Type: Article

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