Literature DB >> 8252035

The rapid detection of unknown mutations in nucleic acids.

M Grompe1.   

Abstract

The task of identifying mutations in nucleic acid sequences is a vital component of research in mammalian genetics. With the advent of the polymerase chain reaction, several useful mutation detection techniques have evolved in recent years. The different methods have complementing strengths and a suitable procedure for virtually any experimental situation is now available.

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Year:  1993        PMID: 8252035     DOI: 10.1038/ng1093-111

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  55 in total

Review 1.  Demystified ... the polymerase chain reaction.

Authors:  K R Baumforth; P N Nelson; J E Digby; J D O'Neil; P G Murray
Journal:  Mol Pathol       Date:  1999-02

2.  Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals.

Authors:  D J Araten; K Nafa; K Pakdeesuwan; L Luzzatto
Journal:  Proc Natl Acad Sci U S A       Date:  1999-04-27       Impact factor: 11.205

3.  Homoduplex and heteroduplex polymorphisms of the amplified ribosomal 16S-23S internal transcribed spacers describe genetic relationships in the "Bacillus cereus group".

Authors:  D Daffonchio; A Cherif; S Borin
Journal:  Appl Environ Microbiol       Date:  2000-12       Impact factor: 4.792

4.  Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond.

Authors:  Angelo Agostoni; Emel Aygören-Pürsün; Karen E Binkley; Alvaro Blanch; Konrad Bork; Laurence Bouillet; Christoph Bucher; Anthony J Castaldo; Marco Cicardi; Alvin E Davis; Caterina De Carolis; Christian Drouet; Christiane Duponchel; Henriette Farkas; Kálmán Fáy; Béla Fekete; Bettina Fischer; Luigi Fontana; George Füst; Roberto Giacomelli; Albrecht Gröner; C Erik Hack; George Harmat; John Jakenfelds; Mathias Juers; Lajos Kalmár; Pál N Kaposi; István Karádi; Arianna Kitzinger; Tímea Kollár; Wolfhart Kreuz; Peter Lakatos; Hilary J Longhurst; Margarita Lopez-Trascasa; Inmaculada Martinez-Saguer; Nicole Monnier; István Nagy; Eva Németh; Erik Waage Nielsen; Jan H Nuijens; Caroline O'grady; Emanuela Pappalardo; Vincenzo Penna; Carlo Perricone; Roberto Perricone; Ursula Rauch; Olga Roche; Eva Rusicke; Peter J Späth; George Szendei; Edit Takács; Attila Tordai; Lennart Truedsson; Lilian Varga; Beáta Visy; Kayla Williams; Andrea Zanichelli; Lorenza Zingale
Journal:  J Allergy Clin Immunol       Date:  2004-09       Impact factor: 10.793

5.  Efficient identification of point mutations by automated DNA sequencing of artificial heterozygote samples.

Authors:  F Staedtler; A Pospiech; S Steiner; M Looser
Journal:  Mol Biotechnol       Date:  1998-12       Impact factor: 2.695

Review 6.  Two-dimensional DNA typing: A cost-effective way of analyzing complex mixtures of DNA fragments for sequence variations.

Authors:  J Vijg
Journal:  Mol Biotechnol       Date:  1995-12       Impact factor: 2.695

7.  Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.

Authors:  A W Monreal; J Zonana; B Ferguson
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025

8.  Automated detection of point mutations using fluorescent sequence trace subtraction.

Authors:  J K Bonfield; C Rada; R Staden
Journal:  Nucleic Acids Res       Date:  1998-07-15       Impact factor: 16.971

9.  Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing.

Authors:  J Körkkö; S Annunen; T Pihlajamaa; D J Prockop; L Ala-Kokko
Journal:  Proc Natl Acad Sci U S A       Date:  1998-02-17       Impact factor: 11.205

Review 10.  Porphobilinogen deaminase gene structure and molecular defects.

Authors:  J C Deybach; H Puy
Journal:  J Bioenerg Biomembr       Date:  1995-04       Impact factor: 2.945

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