SHORT REPORT: A common 2 bp deletion mutation in the glucose-6-phosphatasegene in Indian patients with glycogen storage disease type Ia

Authors
Meaney, C Cranston, T Lee, P Genet, S
Citation
C. Meaney et al., SHORT REPORT: A common 2 bp deletion mutation in the glucose-6-phosphatasegene in Indian patients with glycogen storage disease type Ia, J INH MET D, 24(4), 2001, pp. 517-518
Citations number
3
Categorie Soggetti
Endocrinology, Nutrition & Metabolism
Journal title
JOURNAL OF INHERITED METABOLIC DISEASE
ISSN journal
01418955 → ACNP
Volume
24
Issue
4
Year of publication
2001
Pages
517 - 518
Database
ISI
SICI code
0141-8955(200107)24:4<517:SRAC2B>2.0.ZU;2-G
Abstract
This study reports a novel mutation which may be prevalent in Indian patien ts with glycogen storage disease type Ia.