Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Barbra Charina V. Cavan"'
Autor:
Barbra Charina V. Cavan, Leniza G. de Castro-Hamoy, Conchita G. Abarquez, Ebner Bon G. Maceda, Maria Melanie Liberty B. Alcausin
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 3, p 59 (2024)
Hereditary tyrosinemia type I (HT1), or hepatorenal tyrosinemia, is an amino acid disorder which may cause hepatic failure as well as renal and neurologic comorbidities. Early detection of this disorder is possible with newborn screening (NBS). The o
Externí odkaz:
https://doaj.org/article/d0454ed7b0a34f02a0077561ac2bcb4e
Publikováno v:
Acta Medica Philippina. 49
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4f31c39d2361f3ee5800a7c5bf1c80c6
https://doi.org/10.47895/amp.v49i4.913
https://doi.org/10.47895/amp.v49i4.913
Autor:
Barbra Charina V. Cavan, Grace M. Hobson, Jennifer R. Taube, Karen Sperle, James Y. Garbern, Linda Banser, Pavel Seeman
Publikováno v:
Human molecular genetics. 23(20)
Alternative splicing of the proteolipid protein 1 gene (PLP1) produces two forms, PLP1 and DM20, due to alternative use of 5′ splice sites with the same acceptor site in intron 3. The PLP1 form predominates in central nervous system RNA. Mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::348236cd3ffc85c6cbdefccd2a9f1f27
https://pubmed.ncbi.nlm.nih.gov/24890387
https://pubmed.ncbi.nlm.nih.gov/24890387
Autor:
Aideen M. McInerney-Leo, Stephanie Broley, Barbra Charina V. Cavan, Andreas Zankl, Karena Pryce, Syndia Lazarus, Fiona Haslam McKenzie, Matthew A. Brown, Emma L. Duncan, Paulien A. Terhal, Gareth Baynam, David Sillence, Craig F Munns, Johannes Egbertus Hans Pruijs, Gethin P. Thomas
Publikováno v:
BMC Musculoskeletal Disorders
Background The genetic mutation resulting in osteogenesis imperfecta (OI) type V was recently characterised as a single point mutation (c.-14C > T) in the 5’ untranslated region (UTR) of IFITM5, a gene encoding a transmembrane protein with expressi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::498bd686a69b3dbc1f59428078103a83
https://pubmed.ncbi.nlm.nih.gov/24674092
https://pubmed.ncbi.nlm.nih.gov/24674092