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Types and distribution of congenital heart defects associated with trisomy 21 in Singapore

โœ Scribed by Tan, Monica; Xu, Cunzhi; Sim, Sarah KR; Seow, Adeline LH; Tan, Teng Hong; Quek, Swee Chye

Book ID
127294338
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
99 KB
Volume
49
Category
Article
ISSN
1034-4810

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Unusual genotypes in the COL6A1 gene in
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Collagen type VI is a candidate for a role in the pathogenesis of congenital heart defects (CHD) in Down's syndrome. Three restriction fragment length polymorphisms of the COL6A1 gene were used to determine COL6A1 genotypes in 50 families of affected children with trisomy 21 (29 with congenital hear