NOTCH2NLC-related disorders: the widening spectrum and genotype–phenotype correlation
NOTCH2NLC-related disorders: the widening spectrum and genotype–phenotype correlation
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Full title
Author / Creator
Fan, Yu , Xu, Yuming and Shi, Changhe
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publisher
England: BMJ Publishing Group Ltd
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Scope and Contents
Contents
GGC repeat expansion in the 5′ untranslated region of NOTCH2NLC is the most common causative factor in neuronal intranuclear inclusion disease (NIID) in Asians. Such expanded GGC repeats have been identified in patients with leukoencephalopathy, essential tremor (ET), multiple system atrophy, Parkinson’s disease (PD), amyotrophic lateral sclerosis...
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Full title
NOTCH2NLC-related disorders: the widening spectrum and genotype–phenotype correlation
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TN_cdi_proquest_journals_2610300296
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2610300296
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2021-107883
