Acid alpha-glucosidase deficiency: Identification and expression of a missense mutation (S529V) in a Japanese adult phenotype

Human Genetics

Volumn 97, Issue 4, 1996, Pages 496-499

  Tsunoda, Hiroyuki ^a   Ohshima, Toshio ^a   Tohyama, Jun ^a   Sasaki, Masayuki ^a   Sakuragawa, Norio ^a   Martiniuk, Frank ^b  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE; SERINE; VALINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; HUMAN; HUMAN CELL; MISSENSE MUTATION; PRIORITY JOURNAL;

EID: 0029998764     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02267074     Document Type: Article

References (23)

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