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Tandem repeats

Julian C. Knight

in Human Genetic Diversity: Functional Consequences for Health and Disease

Published in print:
2009
Published Online:
September 2009
ISBN:
9780199227693
eISBN:
9780191711015
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199227693.003.0007
Subject:
Biology, Evolutionary Biology / Genetics, Disease Ecology / Epidemiology

The discovery and characterisation of tandem repeat DNA has been of fundamental importance in the analysis of human genetic variation. The nature and origins of satellite, minisatellite, and ... More


Myotonic Dystrophy

Stefan Winblad and Anne-Berit Ekström

in Cognitive and Behavioral Abnormalities of Pediatric Diseases

Published in print:
2010
Published Online:
November 2020
ISBN:
9780195342680
eISBN:
9780197562598
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/oso/9780195342680.003.0057
Subject:
Clinical Medicine and Allied Health, Psychiatry

The myotonic dystrophies, type 1 (DM1) and 2 (DM2) are progressive, autosomal, dominantly inherited disorders, mainly characterized by muscle weakness and atrophy but also by a variable impact on ... More


Double Syndromes:Autism Associated with Genetic, Medical and Metabolic Disorders

Christopher Gillberg

in Cognitive and Behavioral Abnormalities of Pediatric Diseases

Published in print:
2010
Published Online:
November 2020
ISBN:
9780195342680
eISBN:
9780197562598
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/oso/9780195342680.003.0008
Subject:
Clinical Medicine and Allied Health, Psychiatry

A number of conditions—genetic, metabolic, and medical syndromes—have a high rate (more than expected by chance; i.e., more than a few percent) or a very high rate (more than 20%) of several autism ... More


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