We report on five independent families with a chromosome instability disorder that earlier had been called the Nijmegen breakage syndrome (NBS). These families, two from the Netherlands and three from Czechoslovakia, had a total of eight patients, five of whom are still alive. The main clinical mani
β¦ LIBER β¦
Positional cloning of the gene for Nijmegen breakage syndrome
β Scribed by Matsuura, Shinya; Tauchi, Hiroshi; Nakamura, Asako; Kondo, Noriko; Sakamoto, Shuichi; Endo, Satoru; Smeets, Dominique; Solder, Brigitte; Belohradsky, Bernd H.; Der Kaloustian, Vazken M.; Oshimura, Mitsuo; Isomura, Minoru; Nakamura, Yusuke; Komatsu, Kenshi
- Book ID
- 109826689
- Publisher
- Nature Publishing Group
- Year
- 1998
- Tongue
- English
- Weight
- 321 KB
- Volume
- 19
- Category
- Article
- ISSN
- 1061-4036
- DOI
- 10.1038/549
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## BACKGROUND: The curly tail (ct) mutant mouse is one of the best-studied mouse models of spina bifida. The ct mutation has been localized to distal chromosome 4 in two independent studies and was recently postulated to be in the Grhl-3 gene. METHODS: A recombinant BALB/c-ct strain was generated