A novel mutation of the PHKA2 gene in a patient with X-linked liver glycogenosis type 1.
- Resource Type
- Article
- Authors
- Hidaka, Fumio; Sawada, Hirotake; Matsuyama, Misayo; Nunoi, Hiroyuki
- Source
- Pediatrics International. Dec2005, Vol. 47 Issue 6, p687-690. 4p. 2 Diagrams, 1 Graph.
- Subject
- *LIVER glycogenic function
*GENETIC mutation
*PHOSPHORYLASES
*JUVENILE diseases
*PEDIATRICS
- Language
- ISSN
- 1328-8067
Reports a case of X-linked liver glycogenosis-1 caused by a missense mutation of the phosphorylase kinase (Phk) alpha-2 gene in a pediatric patient. Medical history of the subject; Mutation analysis and result; Function of Phk.