Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients (2014)

First Author: Haghighi A
Attributed to:  MICA: MRC Centre for Neuromuscular Diseases funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1186/s13023-014-0119-3

PubMed Identifier: 25208612

Publication URI: http://europepmc.org/abstract/MED/25208612

Type: Journal Article/Review

Parent Publication: Orphanet Journal of Rare Diseases

Issue: 1

ISSN: 1750-1172