Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the β subunit gene (PHKB)

Human Genetics

Volumn 101, Issue 2, 1997, Pages 170-174

  Burwinkel, Barbara ^a   Moses, Shimon W ^b   Kilimann, Manfred W ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLYCOGEN PHOSPHORYLASE; MESSENGER RNA; PHOSPHORYLASE; PHOSPHORYLASE KINASE; RNA;

ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME SUBUNIT; ERYTHROCYTE; GLYCOGEN STORAGE DISEASE; HUMAN; HUMAN CELL; LEUKOCYTE; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

BLOOD CELLS; GLYCOGEN STORAGE DISEASE; HEPATOMEGALY; HUMANS; INFANT; LIVER DISEASES; LIVER FUNCTION TESTS; MALE; MUTATION; PHENOTYPE; PHOSPHORYLASE KINASE;

EID: 0031441094     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050608     Document Type: Article

References (24)

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