Coverart for item
The Resource Molecular diagnosis of genetic diseases, edited by Rob Elles and Roger Mountford

Molecular diagnosis of genetic diseases, edited by Rob Elles and Roger Mountford

Label
Molecular diagnosis of genetic diseases
Title
Molecular diagnosis of genetic diseases
Statement of responsibility
edited by Rob Elles and Roger Mountford
Contributor
Subject
Genre
Language
eng
Summary
In this new edition, leading scientists actively engaged in providing clinical molecular genetic testing have completely revised and updated this highly praised work to include the many new technologies and insights now available for the diagnosis of genetic diseases. Now organized around generic technologies applied to disease-specific diagnosis, the authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. This new edition widens the range of specific diagnostic applications and includes such new topics as comparative sequence analysis and an overview of methods in mutation detection. The largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. As in the first edition, each readily reproducible protocol contains step-by-step instructions, background information, equipment and reagent lists, and tips on troubleshooting and avoiding known pitfalls. Up-to-date and highly practical, Molecular Diagnosis of Genetic Diseases, Second Edition integrates all the latest technologies with the now standard approaches of the first edition, and offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation
Member of
Cataloging source
COO
Dewey number
616/.042
Illustrations
illustrations
Index
index present
Language note
English
LC call number
RB155.6
LC item number
.M65 2004
Literary form
non fiction
Nature of contents
  • dictionaries
  • bibliography
http://library.link/vocab/relatedWorkOrContributorName
  • Elles, Rob
  • Mountford, Roger
Series statement
Methods in molecular medicine
Series volume
92
http://library.link/vocab/subjectName
  • Genetic disorders
  • Genetic Diseases, Inborn
  • Genetic Testing
  • Genetic Techniques
  • HEALTH & FITNESS
  • MEDICAL
  • Genetics
  • Human chromosome abnormalities
  • Life sciences
  • Molecular biology
  • Pathology
Label
Molecular diagnosis of genetic diseases, edited by Rob Elles and Roger Mountford
Instantiates
Publication
Bibliography note
Includes bibliographical references and index
Carrier category
online resource
Carrier category code
  • cr
Carrier MARC source
rdacarrier
Content category
text
Content type code
  • txt
Content type MARC source
rdacontent
Contents
Optimizing PCR for clinical diagnosis / M.P. Bulman -- Current and emerging techniques for diagnostic mutation detection: an overview of methods for mutation detection / C.F. Taylor and G.R. Taylor -- Mutation scanning for the clinical laboratory: DHPLC / J.F. Harvey and J.R. Sampson -- Mutation scanning for the clinical laboratory-protein truncation test / Y. Wallis -- Mutation scanning for the clinical laboratory: automated fluorescent sequencing / A.J. Wallace -- Comparative sequence analysis / C. Mattocks, P. Tarpey and J. Whittaker -- Gene dosage analysis by multiplex amplifiable probe hybridization / J.A. Armour [and others] -- Prenatal detection of chromosome aneuploidy by quantitative fluorescence-PCR / K. Mann -- Fragile X disease / V. Biancalana and J. Macpherson -- Huntington's disease / L. Meredith -- Hematological applications: hemoglobinopathies / J.M. Old -- Cystic fibrosis / H. Cuppens, E. Dequeker and J.J. Cassiman -- Familial adenomatous polyposis / F. Macdonald -- Multiple endocrine neoplasia types 1 and 2 / S. Ellard -- Neurofibromatosis type 1: a common familial cancer syndrome / M. Upadhyaya [and others] -- Duchenne and Becker muscular dystrophy / A.L. Kneppers, I.B. Ginjaar and E. Bakker -- Spinal muscular atrophy / H. Scheffer -- Quality management in molecular genetics / E. Voorhoeve, A.L. Kneppers and S. Patton -- Regulation of genetic testing in clinical practice / U. Kristoffersson
Control code
54448294
Dimensions
unknown
Edition
2nd ed.
Extent
1 online resource (x, 387 pages)
Form of item
online
Isbn
9786610843015
Media category
computer
Media MARC source
rdamedia
Media type code
  • c
Other control number
10.1385/1592594328.
Other physical details
illustrations.
http://library.link/vocab/ext/overdrive/overdriveId
springerp
Specific material designation
remote
System control number
(OCoLC)54448294
Label
Molecular diagnosis of genetic diseases, edited by Rob Elles and Roger Mountford
Publication
Bibliography note
Includes bibliographical references and index
Carrier category
online resource
Carrier category code
  • cr
Carrier MARC source
rdacarrier
Content category
text
Content type code
  • txt
Content type MARC source
rdacontent
Contents
Optimizing PCR for clinical diagnosis / M.P. Bulman -- Current and emerging techniques for diagnostic mutation detection: an overview of methods for mutation detection / C.F. Taylor and G.R. Taylor -- Mutation scanning for the clinical laboratory: DHPLC / J.F. Harvey and J.R. Sampson -- Mutation scanning for the clinical laboratory-protein truncation test / Y. Wallis -- Mutation scanning for the clinical laboratory: automated fluorescent sequencing / A.J. Wallace -- Comparative sequence analysis / C. Mattocks, P. Tarpey and J. Whittaker -- Gene dosage analysis by multiplex amplifiable probe hybridization / J.A. Armour [and others] -- Prenatal detection of chromosome aneuploidy by quantitative fluorescence-PCR / K. Mann -- Fragile X disease / V. Biancalana and J. Macpherson -- Huntington's disease / L. Meredith -- Hematological applications: hemoglobinopathies / J.M. Old -- Cystic fibrosis / H. Cuppens, E. Dequeker and J.J. Cassiman -- Familial adenomatous polyposis / F. Macdonald -- Multiple endocrine neoplasia types 1 and 2 / S. Ellard -- Neurofibromatosis type 1: a common familial cancer syndrome / M. Upadhyaya [and others] -- Duchenne and Becker muscular dystrophy / A.L. Kneppers, I.B. Ginjaar and E. Bakker -- Spinal muscular atrophy / H. Scheffer -- Quality management in molecular genetics / E. Voorhoeve, A.L. Kneppers and S. Patton -- Regulation of genetic testing in clinical practice / U. Kristoffersson
Control code
54448294
Dimensions
unknown
Edition
2nd ed.
Extent
1 online resource (x, 387 pages)
Form of item
online
Isbn
9786610843015
Media category
computer
Media MARC source
rdamedia
Media type code
  • c
Other control number
10.1385/1592594328.
Other physical details
illustrations.
http://library.link/vocab/ext/overdrive/overdriveId
springerp
Specific material designation
remote
System control number
(OCoLC)54448294

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