Fabry disease due to D313Y and novel GLA mutations

OBJECTIVES: Our aim is to report four novel α-gal A gene (GLA) mutations resulting in Fabry disease (FD) and provide evidence of pathogenicity of the D313Y mutation regarding which contradictory data have been presented in the literature. SETTING AND PARTICIPANTS: Twenty-five family members of nine...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:BMJ Open
Prif Awduron: Koulousios, Konstantinos, Stylianou, Konstantinos, Pateinakis, Panagiotis, Zamanakou, Maria, Loules, Gedeon, Manou, Eleni, Kyriklidou, Parthena, Katsinas, Christos, Ouzouni, Alexandra, Kyriazis, John, Speletas, Matthaios, Germenis, Anastasios E
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Publishing Group 2017
Pynciau:
Genetics and Genomics
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5640077/
https://ncbi.nlm.nih.gov/pubmed/28988177
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjopen-2017-017098
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