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Rapid molecular diagnosis of ataxia-telangiectasia by optimised RT-PCR and direct sequencing analysis

✍ Scribed by Esther Mancebo; Arantza Pacho; Paloma de Pablos; Jorge Muñoz-Robles; M. José Castro; Eva Romo; Pablo Morales; Luis González; Estela Paz-Artal; Luis M. Allende

Book ID
116569053
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
204 KB
Volume
210
Category
Article
ISSN
0171-2985

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Molecular prenatal diagnosis of ataxia t
Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays
✍ L. Chessa; M. Piane; S. Prudente; C. Carducci; M. C. Mazzilli; A. Pachtì; M. Neg 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 160 KB 👁 2 views

Ataxia telangiectasia (AT) is a severe autosomal recessive disease, rare but not infrequent in Italy. Owing to the seriousness of the disease, prenatal diagnosis has been attempted in the past by means of cytogenetic, biochemical, radio-biological and indirect molecular analyses. We performed the fi