Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease

Annals of Neurology

Volumn 47, Issue 4, 2000, Pages 536-540

  Ziemssen, Focke ^a   Sindern, Eckhart ^a   Schröder, J Michael ^b   Shin, Yoon S ^c   Zange, Jahen ^d   Kilimann, Manfred W ^a   Malin, Jean Pierre ^a   Vorgerd, Matthias ^a,e  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^c UNIVERSITY OF MUNICH   (Germany)

^d GERMAN AEROSPACE CENTER DLR   (Germany)

^e RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

1,4 ALPHA GLUCAN BRANCHING ENZYME;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 4; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; INBORN ERROR OF METABOLISM; MISSENSE MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

1,4-ALPHA-GLUCAN BRANCHING ENZYME; AMINO ACID SEQUENCE; BASE SEQUENCE; BIOPSY; DNA MUTATIONAL ANALYSIS; FEMALE; GLYCOGEN STORAGE DISEASE TYPE IV; HUMANS; MIDDLE AGED; MUTATION, MISSENSE; SURAL NERVE;

EID: 0034127935     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(200004)47:4<536::AID-ANA22>3.0.CO;2-K     Document Type: Article

References (15)

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