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008 040226s2005 njua b 001 0 eng ;

010 a| 2004004692;

020 a| 0471234443 :c| $71.96;

035 a| (Sirsi) H1033013;

035 a| (OCoLC)54537901;

049 a| NEHH;

245 00 a| Guide to mutation detection /c| edited by Graham R. Taylor, Ian N. M. Day.;

300 a| xiv, 330 pages :b| illustrations ;c| 26 cm;

336 a| text2| rdacontent;

337 a| unmediated2| rdamedia;

338 a| volume2| rdacarrier;

500 a| "Published in association with the Human Genome Organization.";

504 a| Includes bibliographical references and index.;

505 0 a| Genotype to phenotype -- Frequency and nature of mutations and the methods to detect them -- A full coverage, high-resolution human chromosome 22 microarray for clinical and research applications -- Detection of large heterozygous deletions and duplications -- Principles of mutation scanning by DHPLC -- Enzymatic and chemical cleavage methods -- Quality in mutation detection -- Comparison of scanning methods for BRCA1 mutation analysis -- MeltMADGE: economical very high-throughput mutation scanning using thermal ramp electrophoressis in conjunction with MADGE (microplate array) gels -- High throughput SNP genotyping by minisequencing primer extension using oligonucleotide microarrays -- Mutation databases -- Mass spectrometry for high-throughput genotyping -- Locus-specific mutation databases and nomenclature annex -- Extraction of nucleic acids -- Polymerase chain reaction and ARMS -- Minisequencing and capillary electrophoresis -- SNP genotyping using tag-array minisequencing -- Dynamic allele-specific hybridization -- Fluorescence polarization SNP detection -- Pyrosequencing -- Single nucleotide polymorphisms (SNP's) by electronic hybridization -- Manual SSCP and heteroduplex analysis gels -- Fluorescent SSCP: slab gels and capillary electrophoresis -- Denaturing gradient gel electrophoresis -- Protein truncation test -- DHPLC -- Temperature-gradient capillary electrophoresis -- Chemical cleavage of mismatch and enzyme mismatch cleavage -- Automated dye terminator sequencing -- Mutation detection with the Staden package -- Gene dosage by semiquantitative PCR -- Gene dosage by multiplex amplifiable probe hybridization -- Gene dosage by multiplex ligatable probe amplification -- Array CGH -- Microplate array diagonal gel electrophoresis (MADGE).;

650 12 a| DNA Mutational Analysisx| instrumentation.=| ^A942799;

650 12 a| DNA Mutational Analysisx| methods.=| ^A942800;

650 22 a| Gene Dosage.=| ^A932388;

650 22 a| Polymorphism, Single Nucleotide.=| ^A942801;

700 1 a| Taylor, G. R.q| (Graham R.)=| ^A348598;

700 1 a| Day, Ian N. M.=| ^A570756;

710 2 a| Human Genome Organisation.=| ^A942802;

994 a| C0b| NEH;

919 a| BOOK;

959 a| 1033013;

096 a| QU 58.5 G946 2005;

596 a| 4;

998 a| 1568229;

999 a| QU 58.5 G946 2005w| NLMc| 1i| 31740007308731d| 4/26/2013e| 3/25/2013f| 1/28/2011g| 1l| HSLBKm| HSLn| 2p| $71.96r| Ys| Yt| HBKu| 5/18/2005x| BOOKz| HSTACKSo| .STAFF. 0;

Guide to mutation detection / edited by Graham R. Taylor, Ian N. M. Day.

Other author	Taylor, G. R. (Graham R.)
Other author	Day, Ian N. M.
Other author	Human Genome Organisation.
Format	Book
Publication Info	Hoboken, N.J. : Wiley, ©2005.
Description	xiv, 330 pages : illustrations ; 26 cm
Subjects	DNA Mutational Analysis--instrumentation. DNA Mutational Analysis--methods. Gene Dosage. Polymorphism, Single Nucleotide.

Contents	Genotype to phenotype -- Frequency and nature of mutations and the methods to detect them -- A full coverage, high-resolution human chromosome 22 microarray for clinical and research applications -- Detection of large heterozygous deletions and duplications -- Principles of mutation scanning by DHPLC -- Enzymatic and chemical cleavage methods -- Quality in mutation detection -- Comparison of scanning methods for BRCA1 mutation analysis -- MeltMADGE: economical very high-throughput mutation scanning using thermal ramp electrophoressis in conjunction with MADGE (microplate array) gels -- High throughput SNP genotyping by minisequencing primer extension using oligonucleotide microarrays -- Mutation databases -- Mass spectrometry for high-throughput genotyping -- Locus-specific mutation databases and nomenclature annex -- Extraction of nucleic acids -- Polymerase chain reaction and ARMS -- Minisequencing and capillary electrophoresis -- SNP genotyping using tag-array minisequencing -- Dynamic allele-specific hybridization -- Fluorescence polarization SNP detection -- Pyrosequencing -- Single nucleotide polymorphisms (SNP's) by electronic hybridization -- Manual SSCP and heteroduplex analysis gels -- Fluorescent SSCP: slab gels and capillary electrophoresis -- Denaturing gradient gel electrophoresis -- Protein truncation test -- DHPLC -- Temperature-gradient capillary electrophoresis -- Chemical cleavage of mismatch and enzyme mismatch cleavage -- Automated dye terminator sequencing -- Mutation detection with the Staden package -- Gene dosage by semiquantitative PCR -- Gene dosage by multiplex amplifiable probe hybridization -- Gene dosage by multiplex ligatable probe amplification -- Array CGH -- Microplate array diagonal gel electrophoresis (MADGE).
General note	"Published in association with the Human Genome Organization."
Bibliography note	Includes bibliographical references and index.
LCCN	2004004692
ISBN	0471234443 :

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Guide to mutation detection / edited by Graham R. Taylor, Ian N. M. Day.

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