Two novel mutations in glucocerebrosidase, C23W and IVS7−1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference22 articles.
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4. Mutations in Jewish patients with Gaucher disease;Beutler;Blood,1992
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1. Analysis of Glucocerebrosidase (GBA) Gene Mutations in Iranian Patients with Gaucher Disease;IRAN J CHILD NEUROL;2021
2. Oxidative Stress Parameters, Trace Elements, and Lipid Profile in Iranian Patients with Gaucher Disease;Biological Trace Element Research;2019-04-11
3. Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S;Meta Gene;2016-09
4. Advances in GBA-associated Parkinson's disease – Pathology, presentation and therapies;Neurochemistry International;2016-02
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