Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency

Tohoku Journal of Experimental Medicine

Volumn 200, Issue 1, 2003, Pages 47-53

  Ban, Kyoko ^a   Sugiyama, Kohachiro ^a   Goto, Kenji ^a   Mizutani, Fumihiko ^a   Togari, Hajime ^a  

^a NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

Author keywords

Liver glycogenosis; Mutation; PHKA2; Phosphorylase kinase deficiency

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; GUANINE; PHOSPHORYLASE KINASE; THYMINE;

ALLELE; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ERYTHROCYTE; EXON; FAMILY; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 1; GLYCOGEN STORAGE DISEASE TYPE 2; GLYCOGENOLYSIS; HETEROZYGOTE; HUMAN; JAPAN; LIVER BIOPSY; MALE; MISSENSE MUTATION; MOTHER; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; ERYTHROCYTES; EXONS; GLYCOGEN STORAGE DISEASE TYPE I; HEPATOMEGALY; HUMANS; INFANT; INTRONS; LIVER; LIVER FUNCTION TESTS; MALE; MUTATION; PHOSPHORYLASE KINASE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0041671027     PISSN: 00408727     EISSN: None     Source Type: Journal    
DOI: 10.1620/tjem.200.47     Document Type: Article

References (15)

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