TY  - GEN
AU  - Lario,Ana
AU  - de Miguel,Carlos
AU  - Ojeda,Emilio
AU  - Gil,Santiago
AU  - Coll,María J
AU  - Alfonso,Pilar
TI  - [New mutation in a young woman diagnosed with Niemann-Pick disease type C]
SN  - 1578-8989
PY  - 2017///0719
KW  - Adult
KW  - Carrier Proteins
KW  - genetics
KW  - Female
KW  - Genetic Markers
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  - diagnosis
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.medcli.2016.01.031
ER  -