Associated Papers
Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.
Sheth J et al.
Bmc Medical Genetics, 2017
Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.
Hebbar M et al.
American Journal of Medical Genetics. Part A, 2016
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
Verot L et al.
Clinical Genetics, 2007
Structure and function of the NPC2 protein.
Vanier MT et al.
Biochimica Et Biophysica Acta, 2004
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
Park WD et al.
Human Mutation, 2003
Select a paper to view details