𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Secondary metabolic defects in spinal muscular atrophy type II

✍ Scribed by Harpey, Jean-Paul; Charpentier, Christiane; Paturneau-Jouas, Marion; Renault, Francis; Romero, Norma; Fardeau, Michel

Book ID
120987666
Publisher
The Lancet
Year
1990
Tongue
English
Weight
334 KB
Volume
336
Category
Article
ISSN
0140-6736

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Synaptic defects in spinal muscular atro
Synaptic defects in spinal muscular atrophy animal models
✍ Laura Torres-Benito; RocΓ­o Ruiz; LucΓ­a Tabares πŸ“‚ Article πŸ“… 2011 πŸ› Wiley (John Wiley & Sons) 🌐 English βš– 180 KB

## Abstract Proximal spinal muscular atrophy, the most frequent genetic cause of childhood lethality, is caused by homozygous loss or mutation of the __SMN1__ gene on human chromosome 5, which codes for the survival motor neuron (SMN) protein. SMN plays a role in the assembly of small nuclear ribon