Ataxia-telangiectasia: a variant with altered in vitro phenotype of fibroblast cells
β Scribed by U. Ziv; A. Amiel; N.G.J. Jaspers; A.I. Berkel; Y. Shiloh
- Book ID
- 113193623
- Publisher
- Elsevier Science
- Year
- 1989
- Tongue
- English
- Weight
- 711 KB
- Volume
- 210
- Category
- Article
- ISSN
- 0027-5107
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## Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder with multisystem involvement and cancer predisposition, caused by mutations in the A-T mutated (ATM) gene. To study genotypephenotype correlations, we evaluated the clinical and laboratory data of 51 genetically prov
Chromosomal analyses were performed on lymphocytes, fibroblasts and lymphoblastoid cell lines derived from a Saudi family with ataxia telangiectasia (AT). The three siblings of a consanguineous marriage were all affected. The lymphocytes of the AT homozygotes (probands) showed an increase of 2- to 6