Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2)

Human Molecular Genetics

Volumn 5, Issue 5, 1996, Pages 653-658

  Burwinkel, Barbara ^a   Shin, Yoon S ^b   Bakker, Henk D ^c   Deutsch, Johann ^d   Lozano, María José ^e   Maire, Irène ^f   Kilimann, Manfred W ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d Univ Klinik fur Kinder Jugendheil   (Austria)

^e HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^f HÔPITAL DEBROUSSE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

LIVER ENZYME; PHOSPHORYLASE KINASE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD CELL; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME SUBUNIT; FEMALE; GENE MUTATION; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPLICEOSOME; X CHROMOSOME LINKAGE;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOME MAPPING; FEMALE; GENOTYPE; GLYCOGEN STORAGE DISEASE; HUMANS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PHOSPHORYLASE KINASE; RNA; X CHROMOSOME;

EID: 0029940552     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.5.653     Document Type: Article

References (23)

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