Article
Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member.
Molecular diagnosis & therapy - 1 Dec 2017
Topçu Meral, Aktas Dilek, Öztoprak Merih, Mungan Neslihan Önenli, Yuce Aysel, Alikasifoglu Mehmet
Abstract excerpt
BACKGROUND: Niemann-Pick disease Type C (NP-C) is a rare, autosomal recessive lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes. Diagnosis of NP-C can be challenging and is frequently delayed. Identifying mutations in individuals with NP-C and their relatives enables genetic counseling and prenatal diagnosis and may support earlier diagnosis. Here we report findings from a prospective cohort...
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