[PDF.56cc] Uniparental Disomy (UPD) in Clinical Genetics: A Guide for Clinicians and Patients

Uniparental Disomy (UPD) in Clinical Genetics: A Guide for Clinicians and Patients

[PDF.un81] Uniparental Disomy (UPD) in Clinical Genetics: A Guide for Clinicians and Patients

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 | #4990259 in Books |  Liehr Thomas |  2016-08-23 |  2016-08-23 | Original language:English | PDF # 1 |  9.25 x.50 x6.10l,.0 | File type: PDF | 192 pages

 | Uniparental Disomy UPD in Clinical Genetics A Guide for Clinicians and Patients

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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 ...

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