An amelogenin gene defect associated with human X-linked amelogenesis imperfecta
β Scribed by P.M. Collier; J.J. Sauk; J. Rosenbloom; Z.A. Yuan; C.W. Gibson
- Book ID
- 113988677
- Publisher
- Elsevier Science
- Year
- 1997
- Tongue
- English
- Weight
- 480 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0003-9969
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A family with X-linked amelogenesis imperfecta (XAI) is described in which the disease is associated with a nonsense mutation in exon 5 of the amelogenin gene. This mutation involves a single base deletion (CCCC-->CCC) in the exon in an affected male, his sister and his mother. The effect of this de
## Abstract Early in female mammalian embryogenesis, one of the two X chromosomes is inactivated to compensate the gene dosage between males and females. One of the features of X chromosome inactivation (XCI) is the late replication of the inactivated X chromosome. This study reports the identifica