Advances in Human Genetics 1 (eBook, PDF)

Volume 17
Redaktion: Harris, Harry; Hirschhorn, Kurt

• Format: PDF

Produktbeschreibung

Zur Zeit liegt uns keine Inhaltsangabe vor.

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Produktdetails

• Verlag: Springer US
• Seitenzahl: 230
• Erscheinungstermin: 6. Dezember 2012
• Englisch
• ISBN-13: 9781461309871
• Artikelnr.: 44181662

Inhaltsangabe

1 Chorionic Villus Sampling.- Early Trophoblast Development.- Historical Perspectives.- Techniques of Chorionic Villus Sampling.- Chromosomal Analysis.- Metabolic Analysis of Chorionic Villi.- DNA Analysis of Chorionic Villi.- 2 The Molecular Genetics of Hemophilia A and B in Man: Factor VIII and Factor IX Deficiency.- Hemophilia A. Factor VIII Gene.- Hemophilia B. Factor IX Gene.- X-Chromosome Mapping of Factor VIII and IX Genes.- Lessons from the Study of the Molecular Genetics of Hemophilia.- References.- 3 Cloning of the Duchenne/Becker Muscular Dystrophy Locus.- Strategies to Approach the Gene.- Detection of Deletions in DMD and BMD Patients.- Identification of the DMD Transcript.- The DMD Locus.- The DMD/BMD Protein.- Future Prospects.- References.- 4 Trisomy 21: Molecular and Cytogenetic Studies of Nondisjunction.- Scope of the Problem.- Problems to Be Addressed.- Molecular Cytogenetic Organization of Chromosome 21: Implications for Studies of Nondisjunction.- An Experimental Design to Answer the Basic Questions Related to Nondisjunction.- Overview.- References.- 5 Molecular Genetics of Human Salivary Proteins and Their Polymorphisms.- Salivary Protein Polymorphisms.- Molecular Genetic Studies.- Statherin.- Amylase Gene Family.- Cystatin Gene Family.- References.- Addendum.