The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer-Reference-Cited by-同舟云学术

The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer

Published:2016-11 Issue:3 Volume:119 Page:258-269
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Palhais Bruno,Dembic Maja,Sabaratnam Rugivan,Nielsen Kira S.,Doktor Thomas Koed,Bruun Gitte Hoffmann,Andresen Brage Storstein

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference54 articles.

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