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Novel Biallelic <scp> CTSD </scp> Gene Variants Cause Late‐Onset Ataxia and Retinitis Pigmentosa
- Source :
- Movement Disorders. 35:1280-1282
- Publication Year :
- 2020
- Publisher :
- Wiley, 2020.
- Subjects :
- 0303 health sciences
Ataxia
business.industry
Late onset
medicine.disease
Cathepsin D
Pedigree
03 medical and health sciences
0302 clinical medicine
Neurology
Retinitis pigmentosa
Immunology
Humans
Medicine
ddc:610
Neurology (clinical)
medicine.symptom
business
Gene
Retinitis Pigmentosa
030217 neurology & neurosurgery
030304 developmental biology
Subjects
Details
- ISSN :
- 15318257 and 08853185
- Volume :
- 35
- Database :
- OpenAIRE
- Journal :
- Movement Disorders
- Accession number :
- edsair.doi.dedup.....820338636e874086c1ffce660f150d6b
- Full Text :
- https://doi.org/10.1002/mds.28106