Rapid Detection of the Two Common Mutations in Ashkenazi Jewish Patients with Mucolipidosis Type IV
Author:
Affiliation:
1. Department of Neurology, New York University School of Medicine, New York, NY 10016.
Publisher
Mary Ann Liebert Inc
Subject
Genetics(clinical)
Link
http://www.liebertpub.com/doi/pdf/10.1089/109065701753145529
Reference14 articles.
1. Mucolipidosis type IV: Abnormal transport of lipids to lysosomes
2. Identification of the gene causing mucolipidosis type IV
3. Abnormal transport along the lysosomal pathway in Mucolipidosis, type IV disease
4. Full-Length cDNA Cloning and Determination of mRNA 5′and 3′Ends by Amplification of Adaptor-Ligated cDNA
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2. Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series;International Journal of Molecular Sciences;2020-06-26
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