Sequenz und Struktur des Pro-Enteropeptidase-Gens als Basis für Mutationsanalysen bei angeborenem Enteropeptidasemangel

In the book “Angeborener Enteropeptidase-Mangel: Genstrukturaufklärung und Diagnostik” by Cornelius Bück, the author delves into the rare genetic disorder known as congenital enteropeptidase deficiency, or Morbus Hadorn. This condition is characterized by impaired growth and development in affected individuals. Bück starts by providing a comprehensive overview of the disease, its symptoms, and its impact on patients.

The book then proceeds to explain the process of gene structure determination using PCR and sequencing techniques. These methods have proven instrumental in identifying specific gene mutations associated with the disease. Bück highlights the groundbreaking work of fellow researchers who have successfully employed these techniques to uncover genetic abnormalities in affected patients for the first time.

This groundbreaking research not only furthers our understanding of the causal mechanisms behind congenital enteropeptidase deficiency but also opens up avenues for targeted diagnostics and potential therapeutic interventions. By unraveling the genetic basis of the disease, scientists and medical professionals are better equipped to devise tailored treatment strategies.

One of the key strengths of “Angeborener Enteropeptidase-Mangel: Genstrukturaufklärung und Diagnostik” is its focus on bridging the gap between genetic research and clinical practice. It provides valuable insights for geneticists, molecular biologists, and clinicians interested in rare genetic disorders and personalized medicine. Bück’s clear and comprehensive writing style ensures that the book is accessible to both professionals and students in the field.

Moreover, the book underscores the importance of interdisciplinary collaboration to unravel the mysteries of rare diseases. By sharing findings and advancements in genetic research, scientists can work together to develop effective treatments and improve patient outcomes. This collaborative approach is crucial in rare diseases like Morbus Hadorn, where resources and expertise may be limited.

Bück’s “Angeborener Enteropeptidase-Mangel: Genstrukturaufklärung und Diagnostik” is published by Springer Fachmedien Wiesbaden, a renowned publisher in the field of medical and life sciences. The book is available in German, accommodating readers who prefer to access scientific literature in their native language.

For those interested in the book, it can be purchased in both print and digital formats. The ISBN numbers for this publication are 9783658401665 and 9783658401672 for print and digital versions, respectively. With its in-depth exploration of the genetic basis of congenital enteropeptidase deficiency and its practical implications for diagnosis and treatment, this book is an essential resource for researchers, healthcare professionals, and students in the field of genetics and molecular biology.

Ordering “Angeborener Enteropeptidase-Mangel: Genstrukturaufklärung und Diagnostik” not only provides access to valuable scientific insights but also contributes to the ongoing efforts to improve the lives of individuals suffering from rare genetic disorders. By expanding our knowledge and understanding of these conditions, we move closer to providing more personalized and effective treatments, ultimately enhancing the quality of life for patients and their families.

In conclusion, “Angeborener Enteropeptidase-Mangel: Genstrukturaufklärung und Diagnostik” by Cornelius Bück is a comprehensive and informative book that sheds light on the genetic underpinnings of congenital enteropeptidase deficiency. It offers valuable insights into the disease and its diagnosis, showcasing the importance of genetic research and interdisciplinary collaboration in rare genetic disorders. By ordering this book, you not only gain access to cutting-edge research but also contribute to the advancement of knowledge in this field.

Product Details

• Publisher: Springer Fachmedien Wiesbaden; January 1, 2023
• Language: German
• ISBN: 9783658401665
• ISBN: 9783658401672