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C J Bontekoe

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Articles 4
Citations 110
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Recent Articles
1.
Bontekoe C, Bakker C, Nieuwenhuizen I, van der Linde H, Lans H, de Lange D, et al.
Hum Mol Genet . 2001 Aug; 10(16):1693-9. PMID: 11487573
Fragile X syndrome is one of 14 trinucleotide repeat diseases. It arises due to expansion of a CGG repeat which is present in the 5'-untranslated region of the FMR1 gene,...
2.
Bontekoe C, de Graaff E, Nieuwenhuizen I, Willemsen R, Oostra B
Eur J Hum Genet . 1997 Dec; 5(5):293-8. PMID: 9412786
Fragile X syndrome is caused by an expansion of the CGG repeat present in the 5' UTR of the FMR1 gene. A lot has been elucidated about the genetics of...
3.
Heutink P, Haitjema T, Breedveld G, Janssen B, Sandkuijl L, Bontekoe C, et al.
J Med Genet . 1994 Dec; 31(12):933-6. PMID: 7891375
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder with unknown pathophysiology that is characterised by arteriovenous lesions and recurrent haemorrhage in virtually every organ. Linkage of HHT to markers...
4.
Bontekoe C, de Graaff E, Breedveld G, Oostra B, Heutink P
Hum Mol Genet . 1993 Oct; 2(10):1747. PMID: 8268942
No abstract available.