Výsledky vyhledávání

Mutational analysis of the Escherichia coli glpFK region with Tn5 mutagenesis and the polymerase chain reaction

Autor: Y H Zhang, James R. Lupski, M Minter, E R McCabe, Beng Guat Ooi, M Rieger, Thearith Koeuth, B Hsu

Publikováno v: Journal of Bacteriology. 172:6129-6134

Transposon Tn5 mutagenesis of the Escherichia coli chromosome was used to isolate 21 independent insertion mutations conferring an altered colony color phenotype on MacConkey-glycerol plates. The polymerase chain reaction was used to map 16 of these

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49b757371f81464fc63f39cb5dd6ef8e
https://doi.org/10.1128/jb.172.10.6129-6134.1990

Zobrazit plný text záznamu

Medical genetics

Autor: E. R. McCabe

Publikováno v: JAMA: The Journal of the American Medical Association. 275:1819-1821

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9dbacda330b1d32d060ca8bee0e9f406
https://doi.org/10.1001/jama.275.23.1819

Zobrazit plný text záznamu

Postgenomic medicine. Presymptomatic testing for prediction and prevention

Autor: L L, McCabe, E R, McCabe

Publikováno v: Clinics in perinatology. 28(2)

Significant changes are occurring in genetic screening paradigms. Genetic screening is moving from traditional analytes, such as small molecules and proteins, to molecular genetic testing involving DNA and RNA. There are significant consequences to t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::08f0705a3ab09476f3b7d1ede26f91be
https://pubmed.ncbi.nlm.nih.gov/11499063

Zobrazit plný text záznamu

AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency

Autor: Y, Zhang, K M, Dipple, E, Vilain, B L, Huang, G, Finlayson, B L, Therrell, K, Worley, P, Deininger, E R, McCabe

Publikováno v: Human mutation. 15(4)

Glycerol kinase deficiency has three distinct forms: an isolated form which may be benign or symptomatic, and a complex form which is symptomatic and part of an Xp21 contiguous gene syndrome. Here we report the case of a male with benign isolated gly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::157ca81574d31013e7a36eb47953e36c
https://pubmed.ncbi.nlm.nih.gov/10737976

Zobrazit plný text záznamu

Medical genetics

Autor: E R, McCabe

Publikováno v: JAMA. 275(23)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6fdf3ff34108b446b71ad0930aee131c
https://pubmed.ncbi.nlm.nih.gov/8642728

Zobrazit plný text záznamu

Amplification of bacterial DNA using highly conserved sequences: automated analysis and potential for molecular triage of sepsis

Autor: K M, McCabe, G, Khan, Y H, Zhang, E O, Mason, E R, McCabe

Publikováno v: Pediatrics. 95(2)

The clinical diagnosis of sepsis remains difficult, particularly in the young child, and would be improved by a rapid and reliable method for identification of bacteria in blood and other body fluids. Polymerase chain reaction (PCR) amplification of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1848ec0da4c77b3a3fdc2d3affe99cdf
https://pubmed.ncbi.nlm.nih.gov/7838630

Zobrazit plný text záznamu

Unbiased analysis of the frequency of beta-thalassemia point mutations in a population of African-American newborns

Autor: D A, Sylvester-Jackson, S L, Page, J M, White, H M, McCabe, Y H, Zhang, B L, Therrell, E R, McCabe

Publikováno v: Archives of pathologylaboratory medicine. 117(11)

To determine frequency of specific beta-thalassemia alleles in the African-American population prospectively, using newborn screening specimens, and to evaluate the need for including these alleles in screening follow-up programs.Allele-specific olig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3198a5dd8ef39acc321d8223eb66d5e1
https://pubmed.ncbi.nlm.nih.gov/8239931

Zobrazit plný text záznamu

Cloning and functional expression in yeast of two human isoforms of the outer mitochondrial membrane channel, the voltage-dependent anion channel

Autor: E, Blachly-Dyson, E B, Zambronicz, W H, Yu, V, Adams, E R, McCabe, J, Adelman, M, Colombini, M, Forte

Publikováno v: The Journal of biological chemistry. 268(3)

The voltage-dependent anion channel (VDAC) of the outer mitochondrial membrane is a small abundant protein found in all eukaryotic kingdoms which forms a voltage-gated pore when incorporated into planar lipid bilayers. VDAC is also the site of bindin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3cdbb68980ccbe9bdee16f9954e09db9
https://pubmed.ncbi.nlm.nih.gov/8420959

Zobrazit plný text záznamu

Prevalence of K329E mutation in the medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards

Autor: Y, Matsubara, K, Narisawa, K, Tada, H, Ikeda, Y, Yeqi, D M, Danks, A, Green, E R, McCabe

Publikováno v: Progress in clinical and biological research. 375

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0563111b6b1c8dbf8f5bbe8a65e70193
https://pubmed.ncbi.nlm.nih.gov/1359564

Zobrazit plný text záznamu

Isodicentric X chromosome in a patient with Turner syndrome--implications for localization of the X-inactivation center

Autor: F F Elder, David H. Ledbetter, E R McCabe, A L Pettigrew

Publikováno v: Human genetics. 87(4)

Cytogenetic analyses have previously shown that the region Xq11.2-q21 is retained in all structurally abnormal X chromosomes. From these observations the conclusion has been drawn that this "critical region" on the proximal long arm of the X chromoso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8973a006d31ddf3dbb5232f2733d793
https://pubmed.ncbi.nlm.nih.gov/1879836

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání