Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients
β Scribed by E. Popowska; E. Ciara; D. Rokicki; E. Pronicka
- Book ID
- 110225112
- Publisher
- Springer
- Year
- 1999
- Tongue
- English
- Weight
- 34 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0141-8955
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Communicated by Mark H. Paalman Alagille syndrome (AGS) is an autosomal dominant disorder with developmental abnormalities of the liver, heart, eyes, vertebrae, and face. Mutations in the JAG1 (Jagged 1) gene, coding a ligand in the evolutionarily conserved Notch signaling pathway, are responsible f
Duchenne muscular dystrophy (DMD) is an X-linked degenerative disorder of muscle, caused by gross rearrangements by the dystrophin gene in two-thirds of cases. The remaining one-third of patients may carry more subtle mutations that are difficult to detect because of the large size and complexity of