Mutations in the testis/liver isoform of the phosphorylase kinase γ subunit [PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans

Nature Genetics

Volumn 14, Issue 3, 1996, Pages 337-340

  Maichele, Andrea J ^a   Burwinkel, Barbara ^a   Maire, Irène ^b   Søvik, Oddmund ^c   Kilimann, Manfred W ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b HÔPITAL DEBROUSSE   (France)

^c UNIVERSITY OF BERGEN   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHORYLASE KINASE;

ADOLESCENT; ANIMAL; ARTICLE; CASE REPORT; DNA SEQUENCE; ENZYMOLOGY; FEMALE; GENETICS; GLYCOGEN LIVER LEVEL; GLYCOGEN STORAGE DISEASE; HOMOZYGOTE; HUMAN; INFANT; LIVER; MALE; METABOLISM; MUTATION; PRESCHOOL CHILD; RAT; RAT STRAIN; TESTIS; TRANSPOSON;

ADOLESCENT; ANIMALS; CHILD, PRESCHOOL; DNA TRANSPOSABLE ELEMENTS; FEMALE; GLYCOGEN STORAGE DISEASE; HOMOZYGOTE; HUMANS; INFANT; LIVER; LIVER GLYCOGEN; MALE; MUTATION; PHOSPHORYLASE KINASE; RATS; RATS, INBRED STRAINS; SEQUENCE ANALYSIS, DNA; TESTIS;

EID: 0030292489     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1196-337     Document Type: Letter

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