Premium
Identification of a 5′ splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa
Author(s) -
Uotani S.,
Yamasaki H.,
Takino H.,
Kawasaki E.,
Matsuo H.,
Yamasaki S.,
Jinno Y.,
Niikawa N.,
Ito M.,
Sugie H.,
Yamaguchi Y.,
Eguchi K.
Publication year - 2000
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005632818722
Subject(s) - medicine , pediatrics