Results 231 to 240 of about 182,601 (264)
Some of the next articles are maybe not open access.
Mutational analysis of mitochondrial DNA of children with Rett syndrome
Pediatric Neurology, 1997The present study was undertaken to identify whether mitochondrial DNA (mtDNA) mutations were involved in the pathogenesis of Rett syndrome (RS). Mitochondrial DNA from 15 children with RS and 14 of their mothers was analyzed. No large deletions in mtDNA were found using Southern blot with a full-length mtDNA as a probe.
J, Tang, Y, Qi, X H, Bao, X R, Wu
openaire +2 more sources
Mutation Surveyor: Software for DNA Sequence Analysis
2010Advances in high-throughput sequencing techniques had presented a significant challenge to the processing capabilities of genetic laboratories. However, recent developments in the field of semi-automated mutation detection have revolutionised the task of mutation detection.This chapter provides user information for one commercially available program ...
Jayne A L, Minton +2 more
openaire +2 more sources
Point mutation analysis of archived cytogenetic slide DNA
Cytogenetics and Cell Genetics, 2008Archived Giemsa-stained cytogenetic slide repositories represent valuable DNA resources for medical, scientific, and forensic studies. Sequencing readily identified a Charcot-Marie-Tooth disease point mutation in a 209-bp PCR amplified product. With optimal PCR primers and amplification conditions, our protocol quickly and reliably isolated sufficient ...
H, Sago, J D, Goldberg, R V, Lebo
openaire +2 more sources
DNA sequence analysis of prm− mutations of coliphage lambda
Gene, 1980Nucleotide sequence changes associated with mutation of the prm promoter of bacteriophage lambda have been determined. Prm-mutations have been assigned to two classes. Class I mutations appear to affect the interaction of RNA polymerase with prm; six class I mutations affect four sites, located 14, 33, 38, and 39 bp preceding the prm transcription ...
E D, Rosen +6 more
openaire +2 more sources
DNA Mutation Analysis in Heterotaxy
2006Heterotaxy refers to the abnormal arrangement of internal organs in relation to each other. It is characterized by complex cardiac malformations that are thought to result from abnormal left-right patterning in early embryonic development. Mutations in four genes have been identified in human heterotaxy. ZIC3, a zinc finger transcription factor, causes
openaire +2 more sources
Analysis of the Hb M Milwaukee mutation at the DNA level
British Journal of Haematology, 1983Summary. Restriction endonuclease mapping of cellular DNA with the enzyme Sst I has been used to detect the haemoglobin (Hb) Milwaukee mutation directly. Instead of a normal 15.5 kilobase pairs (kb) fragment which contains the normal β‐globin structural genes, in heterozygous Hb M Milwaukee DNA two additional fragments of 9.0 kb and 6.5 kb were ...
J, Horst +3 more
openaire +2 more sources
DNA microarray analysis of fim mutations in Escherichia coli
Molecular Genetics and Genomics, 2002Bacterial adhesion is often mediated by complex polymeric surface structures referred to as fimbriae. Type 1 fimbriae of Escherichia coli represent the archetypical and best characterised fimbrial system. These adhesive organelles mediate binding to D-mannose and are directly associated with virulence in the urinary tract.
Schembri, M. A. +4 more
openaire +5 more sources
Analysis of Mutation Mechanisms in Human Mitochondrial DNA
Molecular Biology, 2005The cause of the high variability of human mitochondrial DNA (mtDNA) remains largely unknown. Three mechanisms of mutagenesis that might account for the generation of nucleotide substitutions in mtDNA have been analyzed: deamination of DNA nitrous bases caused by deamination agents, tautomeric proton migration in nitrous bases, and the hydrolysis of ...
I. V. Kornienko, B. A. Malyarchuk
openaire +3 more sources
Improved Detection of the Sickle Mutation by DNA Analysis
New England Journal of Medicine, 1982DETECTION of sickle hemoglobin in the human fetus was first accomplished nearly 10 years ago.1 , 2 This marked the beginning of a technology for prenatal diagnosis of the hemoglobinopathies.
S H, Orkin +3 more
openaire +2 more sources
Mutational analysis of bacteriophage phi 29 DNA polymerase.
Methods in enzymology, 1996Peer ...
Blanco Dávila, Luis, Salas, Margarita
openaire +2 more sources