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

Molecular diagnosis of genetic diseases, edited by Rob Elles

Label
Molecular diagnosis of genetic diseases
Title
Molecular diagnosis of genetic diseases
Statement of responsibility
edited by Rob Elles
Contributor
Subject
Genre
Language
eng
Summary
Expert clinical investigators present their best and most reliable methods for the molecular diagnosis of common genetic disorders. The methods-organized by disease or diagnostic area-are robust and reproducible. They contain not only essential day-to-day benchtop wisdom and instruction, but also offer possibilities for introducing new molecular genetic diagnostic tests, as well as invaluable advice on controls, quality standards, and interpretation. Among the genetic diseases discussed are Duchenne/Becker muscular dystrophy, familial adenomatous polyposis, X-chromosome inactivation, Prader-Willi and Angelman syndromes, Huntington's disease, myotonic dystrophy, fragile X disease, cystic fibrosis, familial hypochloresterolemia, and the hemoglobinopathies
Member of
Action
digitized
Cataloging source
YNG
Dewey number
616/.042
Illustrations
illustrations
Index
index present
Language note
English
LC call number
RB155.6
LC item number
.M65 1996
Literary form
non fiction
Nature of contents
  • dictionaries
  • bibliography
NLM call number
QZ 50 M71835 1996
http://library.link/vocab/relatedWorkOrContributorName
Elles, Rob
Series statement
Methods in molecular medicine
Series volume
5
http://library.link/vocab/subjectName
  • Genetic disorders
  • Genetic Diseases, Inborn
  • Genetic Testing
  • Genetic Techniques
  • Cytology
  • Medicine
  • Erfelijke ziekten
  • Moleculaire biologie
  • Diagnostiek
  • Wetenschappelijke technieken
  • Genetica humana e medica
Label
Molecular diagnosis of genetic diseases, edited by Rob Elles
Instantiates
Publication
Antecedent source
file reproduced from original
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
An overview of clinical molecular genetics / R. Elles-Pcr techniques for deletion, linkage, and mutation analysis in duchenne/becker muscular dystrophy / R. Mountford-Detection of unstable trinucleotide repeats / A.J. Wallace-Searching for mutations : Familial adenomatous polyposis as a case study / I.M. Frayling and A.J. Rowan-Methods for screening in cystic fibrosis / M. Schwarz and G. Malone-Characterization of gene rearrangements and gene conversion events in the 21-hydroxylase gene / S.C. Ramsden and P.J. Sinnott-Molecular analysis of x-chromosome inactivation / D.O. Robinson and J.F. Harvey-Risk analysis / A.P. Read-Hemoglobinopathies : Community clues to mutation detection / J.M. Old-Automated genotyping in diagnosis / J.S. Noble [and others]-Genetic counseling and molecular testing / L. Kerzin-Storrar-Molecular approaches to the detection of deletions and uniparental disomy in prader-willi and angelman syndromes / J.F. Harvey and J.A. Crolla-Noninvasive prenatal diagnosis using fetal cells in maternal blood / Y.M. Lo-Pcr from single cells for preimplantation diagnosis / P.F. Ray and A.H. Handyside-Fish in preimplantation diagnosis / J.C. Harper and J.D. Delhanty-Microtiter array diagonal gel electrophoresis (madge) for population scale genotype analyses / I.N. Day [and others]-Pulsed field gel electrophoresis for detection of gene rearrangements in duchenne muscular dystrophy / D.J. Cockburn and A. Seller-Fluorescent sequencing protocols in diagnosis / C.A. Graham and A.J. Hill-High throughput modifications of single-strand conformation polymorphism analysis : Mutation detection in familial hypercholesterolemia / S.E. Humphries [and others]-Quality assurance in molecular diagnosis : The UK experience / S.A. Stenhouse and H. Middleton-Price
Control code
234540382
Dimensions
unknown
Extent
1 online resource (xi, 356 pages)
File format
unknown
Form of item
online
Isbn
9781592595891
Level of compression
unknown
Media category
computer
Media MARC source
rdamedia
Media type code
  • c
Other control number
10.1385/0896033465
Other physical details
illustrations.
Quality assurance targets
unknown
Reformatting quality
unknown
Reproduction note
Electronic reproduction.
Specific material designation
remote
System control number
(OCoLC)234540382
System details
Master and use copy. Digital master created according to Benchmark for Faithful Digital Reproductions of Monographs and Serials, Version 1. Digital Library Federation, December 2002.
Label
Molecular diagnosis of genetic diseases, edited by Rob Elles
Publication
Antecedent source
file reproduced from original
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
An overview of clinical molecular genetics / R. Elles-Pcr techniques for deletion, linkage, and mutation analysis in duchenne/becker muscular dystrophy / R. Mountford-Detection of unstable trinucleotide repeats / A.J. Wallace-Searching for mutations : Familial adenomatous polyposis as a case study / I.M. Frayling and A.J. Rowan-Methods for screening in cystic fibrosis / M. Schwarz and G. Malone-Characterization of gene rearrangements and gene conversion events in the 21-hydroxylase gene / S.C. Ramsden and P.J. Sinnott-Molecular analysis of x-chromosome inactivation / D.O. Robinson and J.F. Harvey-Risk analysis / A.P. Read-Hemoglobinopathies : Community clues to mutation detection / J.M. Old-Automated genotyping in diagnosis / J.S. Noble [and others]-Genetic counseling and molecular testing / L. Kerzin-Storrar-Molecular approaches to the detection of deletions and uniparental disomy in prader-willi and angelman syndromes / J.F. Harvey and J.A. Crolla-Noninvasive prenatal diagnosis using fetal cells in maternal blood / Y.M. Lo-Pcr from single cells for preimplantation diagnosis / P.F. Ray and A.H. Handyside-Fish in preimplantation diagnosis / J.C. Harper and J.D. Delhanty-Microtiter array diagonal gel electrophoresis (madge) for population scale genotype analyses / I.N. Day [and others]-Pulsed field gel electrophoresis for detection of gene rearrangements in duchenne muscular dystrophy / D.J. Cockburn and A. Seller-Fluorescent sequencing protocols in diagnosis / C.A. Graham and A.J. Hill-High throughput modifications of single-strand conformation polymorphism analysis : Mutation detection in familial hypercholesterolemia / S.E. Humphries [and others]-Quality assurance in molecular diagnosis : The UK experience / S.A. Stenhouse and H. Middleton-Price
Control code
234540382
Dimensions
unknown
Extent
1 online resource (xi, 356 pages)
File format
unknown
Form of item
online
Isbn
9781592595891
Level of compression
unknown
Media category
computer
Media MARC source
rdamedia
Media type code
  • c
Other control number
10.1385/0896033465
Other physical details
illustrations.
Quality assurance targets
unknown
Reformatting quality
unknown
Reproduction note
Electronic reproduction.
Specific material designation
remote
System control number
(OCoLC)234540382
System details
Master and use copy. Digital master created according to Benchmark for Faithful Digital Reproductions of Monographs and Serials, Version 1. Digital Library Federation, December 2002.

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