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Mucopolysaccharidosis type I: Identification of 13 novel mutations of the α‐L‐iduronidase gene
Author(s) -
Bunge Susanna,
Kleijer Wim J.,
Steglich Cordula,
Beck Michael,
Schwinger Eberhard,
Gal Andreas
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.1380060119
Subject(s) - biology , genetics , identification (biology) , gene , mucopolysaccharidosis type i , mucopolysaccharidosis i , mutation , mucopolysaccharidosis , computational biology , disease , medicine , enzyme replacement therapy , biochemistry , botany