Molecular Diagnosis of Genetic Diseases

Detalles Bibliográficos
Autor Corporativo: SpringerLink (Online service)
Otros Autores: Elles, Rob. (Editor )
Formato: eBook
Lenguaje:English
Publicado: Totowa, NJ : Humana Press : Imprint: Humana, 1996.
Edición:1st ed. 1996.
Colección:Methods in Molecular Medicine, 5
Materias:
Acceso en línea:https://doi.org/10.1385/0896033465
LEADER 02130nam a22002895i 4500
001 978-1-59259-589-1
005 20191027051647.0
007 cr nn 008mamaa
008 100301s1996 xxu| s |||| 0|eng d
020 |a 9781592595891 
024 7 |a 10.1385/0896033465  |2 doi 
040 |a Sistema de Bibliotecas del Tecnológico de Costa Rica 
245 1 0 |a Molecular Diagnosis of Genetic Diseases  |c edited by Rob Elles. 
250 |a 1st ed. 1996. 
260 # # |a Totowa, NJ :  |b Humana Press :  |b Imprint: Humana,  |c 1996. 
300 |a X, 356 p.  |b online resource. 
336 |a text  |b txt  |2 rdacontent 
337 |a computer  |b c  |2 rdamedia 
338 |a online resource  |b cr  |2 rdacarrier 
490 1 |a Methods in Molecular Medicine,  |v 5 
505 0 |a An Overview of Clinical Molecular Genetics -- PCR Techniques for Deletion, Linkage, and Mutation Analysis in Duchenne/Becker Muscular Dystrophy -- Detection of Unstable Trinucleotide Repeats -- Searching for Mutations -- Methods for Screening in Cystic Fibrosis -- Characterization of Gene Rearrangements and Gene Conversion Events in the 21-Hydroxylase Gene -- Molecular Analysis of X-Chromosome Inactivation -- Risk Analysis -- Hemoglobinopathies -- Automated Genotyping in Diagnosis -- Genetic Counseling and Molecular Testing -- Molecular Approaches to the Detection of Deletions and Uniparental Disomy in Prader-Willi and Angelman Syndromes -- Noninvasive Prenatal Diagnosis Using Fetal Cells in Maternal Blood -- PCR from Single Cells for Preimplantation Diagnosis -- FISH in Preimplantation Diagnosis -- Microtiter Array Diagonal Gel Electrophoresis (MADGE) for Population Scale Genotype Analyses -- Pulsed Field Gel Electrophoresis for Detection of Gene Rearrangements in Duchenne Muscular Dystrophy -- Fluorescent Sequencing Protocols in Diagnosis -- High Throughput Modifications of Single-Strand Conformation Polymorphism Analysis -- Quality Assurance in Molecular Diagnosis. 
650 0 |a Cell biology. 
650 1 4 |a Cell Biology. 
700 1 |a Elles, Rob.  |e editor. 
710 2 |a SpringerLink (Online service) 
773 0 |t Springer eBooks 
856 4 0 |u https://doi.org/10.1385/0896033465