[New mutation in a young woman diagnosed with Niemann-Pick disease type C].
Lario, Ana
[New mutation in a young woman diagnosed with Niemann-Pick disease type C]. [electronic resource] - Medicina clinica Jun 2016 - 494-6 p. digital
Publication Type: Case Reports; Journal Article
1578-8989
10.1016/j.medcli.2016.01.031 doi
Adult
Carrier Proteins--genetics
Female
Genetic Markers
Humans
Intracellular Signaling Peptides and Proteins
Membrane Glycoproteins--genetics
Mutation
Niemann-Pick C1 Protein
Niemann-Pick Disease, Type C--diagnosis
[New mutation in a young woman diagnosed with Niemann-Pick disease type C]. [electronic resource] - Medicina clinica Jun 2016 - 494-6 p. digital
Publication Type: Case Reports; Journal Article
1578-8989
10.1016/j.medcli.2016.01.031 doi
Adult
Carrier Proteins--genetics
Female
Genetic Markers
Humans
Intracellular Signaling Peptides and Proteins
Membrane Glycoproteins--genetics
Mutation
Niemann-Pick C1 Protein
Niemann-Pick Disease, Type C--diagnosis