Amelogenesis imperfecta phenotype–genotype correlations with two amelogenin gene mutations
✍ Scribed by P.S. Hart; M.J. Aldred; P.J.M. Crawford; N.J. Wright; T.C. Hart; J.T. Wright
- Book ID
- 113988297
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 214 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0003-9969
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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
## Communicated by Randy Eisensmith Dihydropteridine reductase (DHPR) is an enzyme involved in recycling of tetrahydrobiopterin (BH 4 ), the cofactor of the aromatic amino acid hydroxylases. Its deficiency is characterized by hyperphenylalaninemia due to the secondary defect of phenylalanine hydro