✦ LIBER ✦

Ataxia-telangiectasia: Mutations and molecular diagnostics

✍ Scribed by R.A. Gatti; S. Castellvi-Bel; S. Sheikhavandi; M. Telatar

Book ID: 117326094
Publisher: Elsevier Science
Year: 1998
Tongue: English
Weight: 275 KB
Volume: 35
Category: Article
ISSN: 0161-5890
DOI: 10.1016/s0161-5890(98)90409-6

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular pathology of ataxia telangiect

Molecular pathology of ataxia telangiectasia

✍ Taylor, A M R 📂 Article 📅 2005 🏛 BMJ Publishing Group 🌐 English ⚖ 137 KB

Ataxia telangiectasia gene mutations and

Ataxia telangiectasia gene mutations and chronic lymphocytic leukaemia

✍ MR Yuille; A Marossy; D Catovsky; RS Houlston 📂 Article 📅 1999 🏛 The Lancet 🌐 English ⚖ 70 KB

New mutations in the ataxia telangiectas

New mutations in the ataxia telangiectasia gene

✍ A. Baumer; Ulrike Bernthaler; Werner Wolz; Holger Hoehn; Detlev Schindler 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 77 KB

P1.080 Genetic mutations in ataxia–telan

P1.080 Genetic mutations in ataxia–telangiectasia patients

✍ S. Karuta; H. Teive; S. Raskin; M.J. Bugallo; W. Arruda 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 61 KB

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

ATAXIA-TELANGIECTASIA

✍ Erik Hansen 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 254 KB