Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Elizabeth C. Wolstencroft"'
Autor:
Lorna W. Harries, Katy Hanlon, Elizabeth C. Wolstencroft, Alexander Sternberg, Sian Ellard, Graham R. Standen
Publikováno v:
The Journal of Molecular Diagnostics. 9:42-46
Achieving a specific diagnosis of polycythemia vera (PV) and other myeloproliferative disorders (MPDs) is often costly and complex. However, the recent identification of a V617F mutation in the JH2 domain of the JAK2 gene in a high proportion of pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62944804a6746f7b7442cacf054c9d90
https://doi.org/10.2353/jmoldx.2007.060083
https://doi.org/10.2353/jmoldx.2007.060083
Autor:
Arthur H.M. Burghes, Michelle L. McWhorter, Elizabeth C. Wolstencroft, Christine E. Beattie, Tessa L. Carrel, Christian L. Lorson, Gary J. Bassell, Eileen Workman, Honglai Zhang
Publikováno v:
The Journal of Neuroscience. 26:11014-11022
Spinal muscular atrophy (SMA) is a motor neuron degenerative disease caused by low levels of the survival motor neuron (SMN) protein and is linked to mutations or loss ofSMN1and retention ofSMN2. How low levels of SMN cause SMA is unclear. SMN functi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa30f144a88035436109f0750818ba6a
https://doi.org/10.1523/jneurosci.1637-06.2006
https://doi.org/10.1523/jneurosci.1637-06.2006
Autor:
Anna A. Bajer, Christian L. Lorson, Philip J. Young, Elizabeth C. Wolstencroft, Virginia B. Mattis
Publikováno v:
Human molecular genetics. 14(9)
Spinal muscular atrophy (SMA) is caused by homozygous loss of the survival motor neuron (SMN1) gene. In virtually all SMA patients, a nearly identical copy gene is present, SMN2. SMN2 cannot fully compensate for the loss of SMN1 because the majority
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d77188bb53493527a984e65a4786dfc3
https://pubmed.ncbi.nlm.nih.gov/15790598
https://pubmed.ncbi.nlm.nih.gov/15790598