Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene.

@article{Platzer1997AtaxiatelangiectasiaLS,
  title={Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene.},
  author={Matthias Platzer and G. Rotman and David M Bauer and Tamar Uziel and K. V. Savitsky and Anat Bar-Shira and Shlomit Gilad and Y. Shiloh and Andr{\'e} Rosenthal},
  journal={Genome research},
  year={1997},
  volume={7 6},
  pages={592-605}
}
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity, and cancer predisposition. The genomic organization of the A-T gene, designated ATM, was established recently. To date, more than 100 A-T-associated mutations have been reported in the ATM gene that do not support the existence of one or several mutational hotspots. To allow genotype/phenotype correlations it will be important to find… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 48 extracted citations

A Leishmania donovani gene that confers accelerated recovery from stationary phase growth arrest.

International journal for parasitology • 2004
View 2 Excerpts
Highly Influenced

References

Publications referenced by this paper.
Showing 1-10 of 38 references

An algorithm for identifying regions of a DNA sequence that satisfy a content

X. Huang
requirement. Comput. Appl. Biosci • 1994
View 4 Excerpts
Highly Influenced

SIGNAL SCAN: a computer program that scans DNA sequences for eukaryotic transcriptional elements

Computer Applications in the Biosciences • 1991
View 3 Excerpts
Highly Influenced

Basic local alignment search tool.

View 2 Excerpts
Highly Influenced

Genetic variation of recent Alu insertions in human populations

Hochmeister, P. A. Ioannou, +5 authors M. Stoneking.
J. Mol. Evol. 42: 22–29. Baumer, A., U. Bernthaler, W. Wolz, H. Hoehn, and D. • 1996

Similar Papers

Loading similar papers…