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

Abstract

Peer reviewed

Samantha A Marcellus, Myrl D. Holida and John A. Bernat

Molecular genetics and metabolism, Vol.120(1-2), pp.S91-S91

01/2017

DOI: 10.1016/j.ymgme.2016.11.224

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Title: Subtitle: Detection of three families with GLA p.A143T mutation and low α-galactosidase levels by newborn screening for Fabry disease
Creators: Samantha A Marcellus - University of Iowa Hospitals and Clinics
Myrl D. Holida - University of Iowa
John A. Bernat - University of Iowa
Resource Type: Abstract
Publication Details: Molecular genetics and metabolism, Vol.120(1-2), pp.S91-S91
DOI: 10.1016/j.ymgme.2016.11.224
ISSN: 1096-7192
eISSN: 1096-7206
Language: English
Date published: 01/2017
Academic Unit: Stead Family Department of Pediatrics; Medical Genetics and Genomics
Record Identifier: 9984354395802771

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