A novel mutation of the PHKA2 gene in a patient with X-linked liver glycogenosis type 1

Pediatrics International

Volumn 47, Issue 6, 2005, Pages 687-690

  Hidaka, Fumio ^a   Sawada, Hirotake ^a   Matsuyama, Misayo ^a   Nunoi, Hiroyuki ^a  

^a UNIVERSITY OF MIYAZAKI   (Japan)

Author keywords

Glycogen storage disease; Hypoglycemia; Missense mutation; Phosphorylase kinase subunit; X linked liver glycogenosis

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; GENE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GLUCOSE TOLERANCE TEST; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; MALE; PHKA2 GENE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER; GENETICS; MISSENSE MUTATION; PEDIGREE;

PHOSPHORYLASE KINASE;

CHILD, PRESCHOOL; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PHOSPHORYLASE KINASE;

EID: 33644878432     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200x.2005.02131.x     Document Type: Article

References (11)

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