Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China

Molecular Genetics and Metabolism

Volumn 102, Issue 2, 2011, Pages 222-225

  Lau, Chi kong ^a   Hui, Joannie ^b   Fong, Fion N Y ^a   To, Ka Fai ^b   Fok, Tai Fai ^b   Tang, Nelson L S ^b   Tsui, Stephen K W ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b Prince of Wales Hospital   (Hong Kong)

Author keywords

Glycogen storage disease; Mutation; Phosphorylase kinase

Indexed keywords

AMINOTRANSFERASE; NEUTROPHIL CYTOPLASMIC ANTIBODY; PHKA2 PROTEIN; PHOSPHORYLASE KINASE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; DNA EXTRACTION; ENZYME ACTIVITY; FEVER; GENE MUTATION; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 9; HEPATOMEGALY; HONG KONG; HUMAN; LIVER BIOPSY; LIVER CELL; LIVER FUNCTION TEST; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; ULTRASOUND; URINARY TRACT INFECTION;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; GENE ORDER; GLYCOGEN STORAGE DISEASE; HONG KONG; HUMANS; LIVER; MALE; MUTATION; PHOSPHORYLASE KINASE;

EID: 78651418240     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.11.004     Document Type: Article

References (12)

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