TY  - GEN
AU  - Bessa,C
AU  - Teixeira,C A F
AU  - Mangas,M
AU  - Dias,A
AU  - Sá Miranda,M C
AU  - Guimarães,A
AU  - Ferreira,J C
AU  - Canas,N
AU  - Cabral,P
AU  - Ribeiro,M G
TI  - Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency
SN  - 1096-7192
PY  - 2006///1213
KW  - Adolescent
KW  - Aminopeptidases
KW  - Base Sequence
KW  - Brain
KW  - diagnostic imaging
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
KW  - Endopeptidases
KW  - genetics
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - Gene Expression Profiling
KW  - Gene Expression Regulation
KW  - Genome, Human
KW  - Humans
KW  - Lysosomal Membrane Proteins
KW  - Magnetic Resonance Imaging
KW  - Membrane Glycoproteins
KW  - Membrane Proteins
KW  - deficiency
KW  - Molecular Chaperones
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Neuronal Ceroid-Lipofuscinoses
KW  - Portugal
KW  - RNA, Messenger
KW  - Radiography
KW  - Serine Proteases
KW  - Sweat Glands
KW  - ultrastructure
KW  - Thiolester Hydrolases
KW  - Tripeptidyl-Peptidase 1
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ymgme.2006.04.010
ER  -