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Więcej informacji o Uniparental Disomy (UPD) in Clinical Genetics

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Opis

This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed.§Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.§

Szczegóły książki

Kategoria Książki po angielsku Medicine Medicine: general issues Medical equipment & techniques

• Pełny tytuł: Uniparental Disomy (UPD) in Clinical Genetics
• Podtytuł: A Guide for Clinicians and Patients
• Autor: Thomas Liehr, NIQUE
• Język: Angielski
• Oprawa: Twarda
• Liczba stron: 192
• EAN: 9783642552878
• ISBN: 3642552870
• ID: 02598685
• Wydawca: Springer-Verlag Berlin and Heidelberg GmbH & Co. KG
• Waga: 482 g
• Wymiary: 244 × 158 × 16 mm
• Data wydania: 10. July 2014

Ulubione w innej kategorii

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