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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
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Uniparental Disomy (UPD) in Clinical Genetics - A Guide for Clinicians and Patients (Paperback, Softcover reprint of the original 1st ed. 2014)
Loot Price: R3,105
Discovery Miles 31 050
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Uniparental Disomy (UPD) in Clinical Genetics - A Guide for Clinicians and Patients (Paperback, Softcover reprint of the original 1st ed. 2014)
Expected to ship within 10 - 15 working days
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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 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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