Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: Possible single origin for 1091delC mutation
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference18 articles.
1. Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations
2. Mutations in Jewish patients with Gaucher disease
3. Molecular Defects in Sanfilippo Syndrome Type A
4. Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)
5. Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses
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4. Mucopolysaccharidosis 3;Atlas of Genetic Diagnosis and Counseling;2017
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