Carrier Screening for Mucolipidosis Type IV in the American Ashkenazi Jewish Population
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference19 articles.
1. Mucolipidosis type IV: clinical spectrum and natural history;Amir;Pediatrics,1987
2. Identification of the gene causing mucolipidosis type IV;Bargal;Nat Genet,2000
3. Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population;Bargal;Hum Mutat,2001
4. Mucolipidosis type IV: abnormal transport of lipids to lysosomes;Bargal;J Inherit Metab Dis,1997
5. Cloning of the gene encoding a novel integral membrane protein, mucolipin-1, and identification of the two founder mutations causing mucolipidosis type IV;Bassi;Am J Hum Genet,2000
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1. Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1;American Journal of Ophthalmology;2024-02
2. Cross-sectional Observations on the Natural History of Mucolipidosis Type IV;Neurology Genetics;2022-03-10
3. Inherited disorders of lysosomal membrane transporters;Biochimica et Biophysica Acta (BBA) - Biomembranes;2020-12
4. The mucolipidoses;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020
5. Current concepts in the neuropathogenesis of mucolipidosis type IV;Journal of Neurochemistry;2018-08-30
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