TY  - GEN
AU  - Macías-Vidal,Judit
AU  - Gort,Laura
AU  - Lluch,Montse
AU  - Pineda,Mercè
AU  - Coll,Maria Josep
TI  - Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain
SN  - 1096-7206
PY  - 2009///0527
KW  - Alleles
KW  - Carrier Proteins
KW  - genetics
KW  - Codon, Nonsense
KW  - Fibroblasts
KW  - pathology
KW  - Genotype
KW  - Humans
KW  - Intracellular Signaling Peptides and Proteins
KW  - Membrane Glycoproteins
KW  - Mutation
KW  - Niemann-Pick C1 Protein
KW  - Niemann-Pick Disease, Type C
KW  - Phenotype
KW  - RNA Stability
KW  - Spain
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ymgme.2009.01.007
ER  -