Founder Mutation R245H of Sanfilippo Syndrome Type A in the Cayman Islands
Author:
Affiliation:
1. Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas 77555
2. Public Health Services, CI Health Services Complex, Grand Cayman, Cayman Islands
Publisher
Mary Ann Liebert Inc
Subject
Genetics(clinical)
Link
http://www.liebertpub.com/doi/pdf/10.1089/109065702761403388
Reference19 articles.
1. Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations
2. Polymorphism of Red Cell S-Formylglutathione Hydrolase in a Finnish Population
3. Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)
4. Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations
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2. Epidemiology of Mucopolysaccharidoses Update;Diagnostics;2021-02-10
3. The mucopolysaccharidoses;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020
4. The Mucopolysaccharidoses;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2015
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