𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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


Identification of a nonsense mutation in
✍ Michael J. Aldred; Peter J. M. Crawford; Enriqueta Roberts; Nicholas S. T. Thoma 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 625 KB

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

Dihydropteridine reductase deficiency: P
✍ Irma Dianzani; Luisa de Sanctis; Peter M. Smooker; Tamara J. Gough; Carla Alliau 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 230 KB 👁 2 views

## 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