Detection of three families with GLA p.A143T mutation and low α-galactosidase levels by newborn screening for Fabry disease

Subjects

Subjects :

Newborn screening
business.industry
Endocrinology, Diabetes and Metabolism
030204 cardiovascular system & hematology
medicine.disease
Biochemistry
Fabry disease
Molecular biology
03 medical and health sciences
0302 clinical medicine
Endocrinology
α galactosidase
Mutation (genetic algorithm)
Genetics
Medicine
030212 general & internal medicine
business
Molecular Biology

Details

ISSN :

10967192

Volume :

120

Database :

OpenAIRE

Journal :

Molecular Genetics and Metabolism

Accession number :

edsair.doi...........b61783148942e5854f9c9dc59533b5f9

Full Text :

https://doi.org/10.1016/j.ymgme.2016.11.224