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Viac informácií o knihe Uniparental Disomy (UPD) in Clinical Genetics

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Anotácia knihy

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.§

Parametre knihy

Zaradenie knihy Knihy po anglicky Medicine Medicine: general issues Medical equipment & techniques

• Celý názov: Uniparental Disomy (UPD) in Clinical Genetics
• Podnázov: A Guide for Clinicians and Patients
• Autor: Thomas Liehr, NIQUE
• Jazyk: Angličtina
• Väzba: Pevná
• Počet strán: 192
• EAN: 9783642552878
• ISBN: 3642552870
• ID: 02598685
• Nakladateľ: Springer-Verlag Berlin and Heidelberg GmbH & Co. KG
• Hmotnosť: 482 g
• Rozmery: 244 × 158 × 16 mm
• Dátum vydania: 10. July 2014

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