Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the β subunit (PHKB)

American Journal of Human Genetics

Volumn 61, Issue 3, 1997, Pages 539-546

  Van Den Berg, Inge E T ^a   Van Beurden, Ellen A C M ^a   De Klerk, Johannis B C ^b,c   Van Diggelen, Otto P ^c   Malingré, Helga E M ^a   Boer, Marijke M ^c   Berger, Ruud ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^c ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHORYLASE KINASE;

ARTICLE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ERYTHROCYTE; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; HUMAN; LIVER LEVEL; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0030876378     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515502     Document Type: Article

References (19)

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