Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy - Concepedia

Concepedia

Publication | Open Access

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy

DOI Full Paper Access

19

Citations

24

References

2008

Year

Jorge Oliveira, Isabel Soares‐Silva, Ivo F.A.C. Fokkema, Ana Gonçalves, Alexandra Cabral, Luísa Diogo, Lucía Galán, António Guimarães, Isabel Fineza, Johan T. den Dunnen,

Journal of Human Genetics

Rare DiseasesDevelopmental BiologyMendelian DisorderGenetic DisorderNovel Synonymous SubstitutionGeneticsMedicineDegenerative DiseaseMolecular GeneticsDisease Gene IdentificationNeuromuscular PathologyPomgnt1 PromotesCongenital Muscular Dystrophy

References

	Year	Citations

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