Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain.

Macías-Vidal, Judit

Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain. [electronic resource] - Molecular genetics and metabolism May 2009 - 60-4 p. digital

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

1096-7206

10.1016/j.ymgme.2009.01.007 doi


Alleles
Carrier Proteins--genetics
Codon, Nonsense--genetics
Fibroblasts--pathology
Genotype
Humans
Intracellular Signaling Peptides and Proteins
Membrane Glycoproteins--genetics
Mutation--genetics
Niemann-Pick C1 Protein
Niemann-Pick Disease, Type C--genetics
Phenotype
RNA Stability--genetics
Spain