A NOVEL SPLICE-SITE MUTATION IN INTRON-1 OF THE GALNS GENE IN A JAPANESE PATIENT WITH MUCOPOLYSACCHARIDOSIS IVA

被引:25
作者
TOMATSU, S
FUKUDA, S
OGAWA, T
KATO, Z
ISOGAI, K
KONDO, N
SUZUKI, Y
SHIMOZAWA, N
SUKEGAWA, K
ORII, T
机构
关键词
D O I
10.1093/hmg/3.8.1427
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:1427 / 1428
页数:2
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