Missense and nonsense mutations in the lysosomal α-mannosidase gene (MANB) in severe and mild forms of α-mannosidosis

American Journal of Human Genetics

Volumn 63, Issue 4, 1998, Pages 1015-1024

  Gotoda, Yasuo ^a   Wakamatsu, Nobuaki ^a   Kawai, Hisaomi ^a   Nishida, Yoshihiko ^a   Matsumoto, Toshio ^a  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA MANNOSIDASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; ENZYME ACTIVITY; FEMALE; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; MALE; MANNOSIDOSIS; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

EID: 0032231667     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302048     Document Type: Article

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