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Angelica Nordin

Kontaktinformation

Befattning:

Postdoktor

personbild

Verksam vid:

Farmakologi och klinisk neurovetenskap

Avdelning:

Klinisk neurovetenskap

Adress:

Umeå universitet
SE-901 85 Umeå
Sverige

Besöksadress:

E-postadress:

angelica.nordin@neuro.umu.seE-post

Publikationer

Författare

Titel

År sorteringsordning

Fulltext

Nordin, Angelica
Larsson, Elin
Holmberg, Monica

The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be de-repressed by IGF2BP1
Human Mutation, 33(3): 467-470

2012

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Nordin, Angelica

Genetic and functional studies of hereditary myopathy with lactic acidosis

2011

Hämta

Nordin, Angelica
Larsson, Elin
Thornell, Lars-Eric; et al.

Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice
Human Genetics, 129(4): 371-378

2010

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Olsson, Angelica
Lind, Lisbet
Thornell, Lars-Eric; et al.

Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect
Human Molecular Genetics, 17(11): 1666-1672

2008

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Sidansvarig: Kerstin Gruffman
2010-11-02

Utskriftsversion