Associated Papers
TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2.
Vafaei N et al.
Molecular Syndromology, 2024
Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update.
Baranzehi T et al.
Journal of Clinical Medicine, 2022
36362641 (PubMed )
Supplement: jcm-11-06415-s001.zip › jcm-1964336-supplementary.pdf
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Gardner E et al.
Human Mutation, 2019
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.
Moore SJ et al.
Clinical Genetics, 2008
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