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Two new mutations, Q473X and N487S, in a caucasian patient with mucopolysaccharidosis IVA (Morquio disease)
Author(s) -
Tomatsu Shunji,
Fukuda Seiji,
Cooper Alan,
Wraith James E.,
Yamada Naoto,
Isogai Kouji,
Kato Zenichiro,
Sukegawa Kazuko,
Kondo Naomi,
Suzuki Yasuyuki,
Shimozawa Nobuyuki,
Orii Tadao
Publication year - 1995
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380060218
Subject(s) - medicine , pediatrics , family medicine , university hospital , medical school , medical education