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Novel compound heterozygous mutation in
- Source :
- Journal of genetics. 99
- Publication Year :
- 2020
-
Abstract
- Niemann-Pick disease type C (NPC) is a progressive lysosomal storage disorder caused by mutations in the
- Subjects :
- Adult
Language Disorders
1-Deoxynojirimycin
Apathy
Intracellular Signaling Peptides and Proteins
Mutation, Missense
Vesicular Transport Proteins
Brain
High-Throughput Nucleotide Sequencing
Niemann-Pick Disease, Type C
Magnetic Resonance Imaging
Corpus Callosum
Niemann-Pick C1 Protein
Humans
Cognitive Dysfunction
Female
Deglutition Disorders
Subjects
Details
- ISSN :
- 09737731
- Volume :
- 99
- Database :
- OpenAIRE
- Journal :
- Journal of genetics
- Accession number :
- edsair.pmid..........ab1cea99ef001439cc548803be8f66b3