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Molecular Diagnosis of Genetic Diseases
  • Language: en
  • Pages: 400

Molecular Diagnosis of Genetic Diseases

This completely revised and updated second edition integrates the many new technologies and insights now available for the diagnosis of genetic diseases. 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. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.

Genetic Engineering
  • Language: en
  • Pages: 232

Genetic Engineering

Over the past decade, our laboratory and others have been concerned with molecular archaeological studies aimed at revealing the origins and evolutionary histories of permeases (1). These studies have revealed that several different families, defined on the basis of sequence similarities, arose independently of each other, at different times in evolutionary history, following different routes. When complete microbial genomes first became available for analysis, we adapted p- existing software and designed new programs that allowed us quickly to identify probable transmembrane proteins, estimate their topologies and determine the likelihood that they function in transport (2). This work allow...

Conditio Humana
  • Language: en
  • Pages: 337

Conditio Humana

None

Genetic Recombination
  • Language: en
  • Pages: 260

Genetic Recombination

Features state-of-the-art techniques to study genetic recombination in eukaryotes; methods for using recombination as a tool for producing targeted genetic modification; chapters on using recombination as a reporter of genomic instability; and biochemical analyses of the mechanisms underlying recombination.

Resúmenes, V Congreso Internacional de Genética Humana
  • Language: en
  • Pages: 220

Resúmenes, V Congreso Internacional de Genética Humana

  • Type: Book
  • -
  • Published: 1976
  • -
  • Publisher: Unknown

None

V [i.e. Quinto] Congreso Internacional de Genética Humana
  • Language: en
  • Pages: 220

V [i.e. Quinto] Congreso Internacional de Genética Humana

  • Type: Book
  • -
  • Published: 1976
  • -
  • Publisher: Unknown

None

Genetic diversity and human equality
  • Language: en
  • Pages: 128
Gene Knockout Protocols
  • Language: en
  • Pages: 431

Gene Knockout Protocols

As the major task of sequencing the human genome nears completion and the full complement of human genes are catalogued, the task of understanding the normal biological functions of genes and how their alteration leads to diseased states becomes more imperative. In Gene Knockout Protocols, highly skilled investigators with extensive experience in gene targeting and mouse genetics describe their best techniques for the design of targeting constructs and for genetic phenotype analysis. These proven methods contain step-by-step instructions, as well as notes on pitfalls to avoid, and emphasize techniques that are relevant to researchers carrying out gene targeting work. These include embryo tra...

Genetic non-discrimination
  • Language: en
  • Pages: 86