Unmasking the Genetic Code: A Pilot Study on Copy Number Variants and Congenital Heart Disease in South Africa
Seiten
2024
tredition (Verlag)
978-3-384-28075-6 (ISBN)
tredition (Verlag)
978-3-384-28075-6 (ISBN)
For decades, scientists have strived to decipher the intricate language of our genes. The discovery of the genetic code, the blueprint for life, marked a monumental leap in our understanding of human health and disease. This pilot study delves beyond the initial "unmasking" of the genetic code, focusing on a specific type of genetic variation - copy number variants (CNVs) - and their potential role in congenital heart disease (CHD) in the South African population.Unveiling Copy Number Variants:Our DNA, the hereditary material passed down through generations, is composed of a meticulously organized sequence of nucleotides. CNVs arise when segments of DNA are either duplicated (gains) or deleted (losses) within the genome. These alterations can encompass a single gene or stretch across vast chromosomal regions, potentially impacting gene function and leading to various health conditions.
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Erscheint lt. Verlag | 5.7.2024 |
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Verlagsort | balki road |
Sprache | englisch |
Maße | 155 x 234 mm |
Gewicht | 181 g |
Themenwelt | Medizinische Fachgebiete ► Innere Medizin ► Kardiologie / Angiologie |
Schlagworte | cardiovascular anomalies • CHD • CNVs • Genetic Mutations • Genetic Screening • genomics • hereditary disorders • Molecular Biology • pediatric cardiology • Population Genetics |
ISBN-10 | 3-384-28075-X / 338428075X |
ISBN-13 | 978-3-384-28075-6 / 9783384280756 |
Zustand | Neuware |
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Buch | Softcover (2024)
Urban & Fischer in Elsevier (Verlag)
89,00 €