𝔖 Bobbio Scriptorium
✦   LIBER   ✦

DMD and BMD in the same family due to two distinct mutations

✍ Scribed by Morandi, L. ;Mora, M. ;Tedeschi, S. ;Blasi, C. Di ;Curcio, C. ;De Leonardis, P. ;Brugnoni, R. ;Bernasconi, P. ;Mantegazza, R. ;Confalonieri, V. ;Cornelio, F.


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
499 KB
Volume
59
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Two distinct phenotypes caused by two di
✍ Bradley, John F.; Collins, Debra L.; Schimke, R. Neil; Parrott, Heather N.; Roth πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 22 KB πŸ‘ 1 views

We have identified a family segregating von Hippel-Lindau (VHL) disease with a previously unreported T547A mutation in exon 1 of the VHL gene that causes a Tyr112 to Asn missense alteration in the protein. The mutation was identified by nucleotide sequencing and confirmed by restriction enzyme diges

Distinct novel mutations affecting the s
✍ Suqin Chen; Chun Song; Hui Guo; Pingyi Xu; Weijun Huang; Yan Zhou; Jiandong Sun; πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 241 KB πŸ‘ 1 views

## Communicated by Christine Van Broeckhoven Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by lower-limb spasticity, hyperreflexia, progressive spastic gait abnormalities, and an extensor-plantar response. It is genetically very heterogeneous, with 28 Human Genome

Two mutations in the same low-density li
✍ Henrik K. Jensen; Thomas G. Jensen; Ole Faergeman; Lillian G. Jensen; Brage S. A πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 200 KB πŸ‘ 1 views

Mutations in genes are not necessarily pathogenic. Expression of mutant genes in cells can therefore be required to demonstrate that mutations in fact disturb protein function. This applies especially to missense mutations, which cause an amino acid to be replaced by another amino acid. In the prese