Detection of novel mutations in the SMN Tudor domain in type I SMA patients.

Cuscó, I

Detection of novel mutations in the SMN Tudor domain in type I SMA patients. [electronic resource] - Neurology Jul 2004 - 146-9 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1526-632X

10.1212/01.wnl.0000132634.48815.13 doi


Amino Acid Sequence
Amino Acid Substitution
Cyclic AMP Response Element-Binding Protein
DNA Mutational Analysis
Exons--genetics
Gene Deletion
Genotype
Humans
Molecular Sequence Data
Mutation, Missense
Nerve Tissue Proteins--genetics
Pedigree
Phenotype
Point Mutation
Protein Structure, Tertiary--genetics
RNA-Binding Proteins
SMN Complex Proteins
Spain
Spinal Muscular Atrophies of Childhood--genetics
Survival of Motor Neuron 1 Protein