Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Jana Kent"'
Autor:
Carl T. Wittwer, David Watkins, David S. Rosenblatt, Alison Brebner, Michael L. Raff, Brian M. Gilfix, Laura Dempsey-Nunez, Qiuying Huang, Jana Kent, Margaret L. Illson
Publikováno v:
Molecular Genetics and Metabolism. 110:86-89
Isolated methylmalonic aciduria (MMA) results either from a defect in the mitochondrial enzyme methylmalonylCoA mutase (MCM), or in the intracellular conversion of vitamin B 12 (cobalamin) into its active coenzyme adenosylcobalamin (AdoCbl). Mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a968a1c06e1b8223ce53576f5157151
https://doi.org/10.1016/j.ymgme.2013.04.020
https://doi.org/10.1016/j.ymgme.2013.04.020
Autor:
Laura Dempsey-Nunez, Margaret L. Illson, Qiuying Huang, Jana Kent, Carl T. Wittwer, Alison Brebner, Brian M. Gilfix, David Watkins, David S. Rosenblatt
Publikováno v:
Molecular Genetics and Metabolism. 107:363-367
The gene product of MMAA is required for the intracellular metabolism of cobalamin (Cbl). Mutations in this gene lead to the cblA class of disorders, characterized by isolated methylmalonic aciduria. We have been concerned that somatic cell methods o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45b374ea3935223b010a6d8ca83296a8
https://doi.org/10.1016/j.ymgme.2012.09.012
https://doi.org/10.1016/j.ymgme.2012.09.012
Publikováno v:
Clinical Chemistry. 53:1891-1898
Background: Complete gene analysis of the cystic fibrosis transmembrane conductance regulator gene (CFTR) by scanning and/or sequencing is seldom performed because of the cost, time, and labor involved. High-resolution DNA melting analysis is a rapid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ff18d54d8e40bd64c7b1a1f054df7a7
https://doi.org/10.1373/clinchem.2007.092361
https://doi.org/10.1373/clinchem.2007.092361
Publikováno v:
Pharmacogenomics. 8:597-608
High-resolution melting of DNA is a simple solution for genotyping, mutation scanning and sequence matching. The melting profile of a PCR product depends on its GC content, length, sequence and heterozygosity and is best monitored with saturating dye
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::220f82cf2cff25a3125fdd5e6af5a6ef
https://doi.org/10.2217/14622416.8.6.597
https://doi.org/10.2217/14622416.8.6.597
Publikováno v:
Human mutation. 35(3)
Melting curve prediction of PCR products is limited to perfectly complementary strands. Multiple domains are calculated by recursive nearest neighbor thermodynamics. However, the melting curve of an amplicon containing a heterozygous single-nucleotid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8834be2f4609b24144093603c0884992
https://pubmed.ncbi.nlm.nih.gov/24375593
https://pubmed.ncbi.nlm.nih.gov/24375593