Atypical juvenile presentation of G M2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene-Reference-Cited by-同舟云学术

Atypical juvenile presentation of G M2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene

Published:2017-06 Issue: Volume:11 Page:24-29
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Martins Carla,Brunel-Guitton Catherine,Lortie Anne,Gauvin France,Morales Carlos R.,Mitchell Grant A.,Pshezhetsky Alexey V.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

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