Glycogen storage disease type II: Identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid α-glucosidase locus of patients of differing phenotype

Biochemical and Biophysical Research Communications

Volumn 244, Issue 3, 1998, Pages 921-927

  Huie, M L ^a   Tsujino, S ^b   Brooks, S Sklower ^c   Engel, A ^d   Elias, E ^e   Bonthron, D T ^h   Bessley, C ^f   Shanske, S ^g   Dimauro, S ^g   Goto, Y I ^b   Hirschhorn, R ^a  

^a NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^d MAYO CLINIC   (United States)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g New York Presbyterian Columbia University Medical Center   (United States)

^h NONE

Author keywords

[No Author keywords available]

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE LOCUS; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

EID: 0032571087     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1006/bbrc.1998.8255     Document Type: Article

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