Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders. (2022)
Attributed to:
MRC Strategic Award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases
funded by
MRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1002/ajmg.a.62848
PubMed Identifier: 35616428
Publication URI: http://europepmc.org/abstract/MED/35616428
Type: Journal Article/Review
Volume: 188
Parent Publication: American journal of medical genetics. Part A
Issue: 9
ISSN: 1552-4825