Spectrum of GALNS mutations and haplotype study in Brazilian patients with Mucopolysaccharidosis type IVA-Reference-Cited by-同舟云学术

Spectrum of GALNS mutations and haplotype study in Brazilian patients with Mucopolysaccharidosis type IVA

Published:2018-06 Issue: Volume:16 Page:77-84
ISSN:2214-5400
Container-title:Meta Gene
language:en
Short-container-title:Meta Gene

Author:

Bochernitsan Aline Nemetz,Brusius-Facchin Ana Carolina,Couto Rowena Rubim,Kubaski Francyne,dos Santos Lopes Simone Silva,Gondim Cátia Eufrazino,de Medeiros Paula Frassinetti Vasconcelos,de Souza Carolina Fischinger Moura,Giugliani Roberto,Leistner-Segal Sandra^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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1. Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile;Molecular Syndromology;2023

2. Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2021-09

3. Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants;Human Mutation;2021-08-23

4. Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region;American Journal of Medical Genetics Part A;2021-06-02

5. Epidemiology of Mucopolysaccharidoses Update;Diagnostics;2021-02-10