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Uniparental Disomy Upd In Clinical Genetics A Guide For Clinicians And Patients 1st Edition Thomas Liehr Auth

  • SKU: BELL-4933886
Uniparental Disomy Upd In Clinical Genetics A Guide For Clinicians And Patients 1st Edition Thomas Liehr Auth
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Uniparental Disomy Upd In Clinical Genetics A Guide For Clinicians And Patients 1st Edition Thomas Liehr Auth instant download after payment.

Publisher: Springer-Verlag Berlin Heidelberg
File Extension: PDF
File size: 3.38 MB
Pages: 192
Author: Thomas Liehr (auth.)
ISBN: 9783642552878, 9783642552885, 3642552870, 3642552889
Language: English
Year: 2014
Edition: 1

Product desciption

Uniparental Disomy Upd In Clinical Genetics A Guide For Clinicians And Patients 1st Edition Thomas Liehr Auth by Thomas Liehr (auth.) 9783642552878, 9783642552885, 3642552870, 3642552889 instant download after payment.

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.

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