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Uniparental disomy and genomic imprinting as causes of human genetic disease

✍ Scribed by Suzanne B. Cassidy


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
851 KB
Volume
25
Category
Article
ISSN
0893-6692

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In the Human Gene Mutation Database (www.hgmd.org), microdeletions and microinsertions causing inherited disease (both defined as involving < or = 20 bp of DNA) account for 8,399 (17%) and 3,345 (7%) logged mutations, in 940 and 668 genes, respectively. A positive correlation was noted between the m

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