Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase β subunit (PHKB)

Human Molecular Genetics

Volumn 6, Issue 7, 1997, Pages 1109-1115

  Burwinkel, Barbara ^a   Maichele, Andrea J ^a   Aagenaes, Øystein ^b   Bakker, Henk D ^c   Lerner, Aaron ^d   Shin, Yoon S ^e   Strachan, Judith A ^f   Kilimann, Manfred W ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b AKER UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d CARMEL MEDICAL CENTER   (Israel)

^e LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^f NINEWELLS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MESSENGER RNA; PHOSPHORYLASE KINASE;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME SUBUNIT; EXON; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GLYCOGEN STORAGE DISEASE; HUMAN; HUMAN CELL; LIVER; LIVER METABOLISM; MALE; MUSCLE; MUSCLE METABOLISM; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADOLESCENT; BASE SEQUENCE; CHILD; DNA TRANSPOSABLE ELEMENTS; EXONS; FEMALE; GLYCOGEN STORAGE DISEASE; HUMANS; INFANT; INTRONS; LIVER GLYCOGEN; MALE; MOLECULAR SEQUENCE DATA; MUSCLES; MUSCULAR DISEASES; MUTATION; PHOSPHORYLASE KINASE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; REPETITIVE SEQUENCES, NUCLEIC ACID; RNA SPLICING; SEQUENCE DELETION;

EID: 0030872217     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.7.1109     Document Type: Article

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