Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Katherine L. Schumacher"'
Autor:
Holli M. Drendel, Mary Stuy, Katherine L. Schumacher, Jason E. Pike, Jing Wang, Karen J. Ouyang, Stephen R. Dlouhy, Shaochun Bai
Publikováno v:
Case Reports in Genetics, Vol 2015 (2015)
Case Reports in Genetics
Case Reports in Genetics
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder that leads to a defect in fatty acid oxidation.ACADMis the only candidate gene causing MCAD deficiency. A single nucleotide change, c.985A>G, occurring at exon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52d8b6890b31f478f5d07a70fc1f0449
https://doaj.org/article/1da832be1e794dd59bfaa169fbe9321b
https://doaj.org/article/1da832be1e794dd59bfaa169fbe9321b
Autor:
Holli M. Drendel, April L. Hall, Jennifer Verbrugge, Katherine L. Schumacher, Mary Pell Abernathy, David D. Weaver, Christian Litton, Christopher B. Griffith, Angela Reese, Gail H. Vance
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 15(9)
We report on a case in which cell-free fetal DNA was positive for trisomy 13 most likely due to confined placental mosaicism. Cell-free fetal DNA testing analyzes DNA derived from placental trophoblast cells and can lead to incorrect results that are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f47f94a76c13527b4311968c652bfce
https://pubmed.ncbi.nlm.nih.gov/23492874
https://pubmed.ncbi.nlm.nih.gov/23492874